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GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) AND Abnormal fetal cardiovascular morphology

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001291977.1

Allele description [Variation Report for GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)]

GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)

Genes:
  • AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
  • ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
  • ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
  • ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ASAH1-AS1:ASAH1 antisense RNA 1 [Gene - HGNC]
  • ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • BAG4:BAG cochaperone 4 [Gene - OMIM - HGNC]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
  • ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • FHIP2B:FHF complex subunit HOOK interacting protein 2B [Gene - OMIM - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
  • GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
  • HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
  • NKX2-6:NK2 homeobox 6 [Gene - OMIM - HGNC]
  • NKX3-1:NK3 homeobox 1 [Gene - OMIM - HGNC]
  • NKX6-3:NK6 homeobox 3 [Gene - OMIM - HGNC]
  • PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
  • POTEA:POTE ankyrin domain family member A [Gene - OMIM - HGNC]
  • R3HCC1:R3H domain and coiled-coil containing 1 [Gene - HGNC]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]
  • SH2D4A:SH2 domain containing 4A [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
  • THAP1:THAP domain containing 1 [Gene - OMIM - HGNC]
  • TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
  • TNFRSF10A:TNF receptor superfamily member 10a [Gene - OMIM - HGNC]
  • TNFRSF10B:TNF receptor superfamily member 10b [Gene - OMIM - HGNC]
  • TNFRSF10C:TNF receptor superfamily member 10c [Gene - OMIM - HGNC]
  • TNFRSF10D:TNF receptor superfamily member 10d [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • XKR5:XK related 5 [Gene - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • AP3M2:adaptor related protein complex 3 subunit mu 2 [Gene - OMIM - HGNC]
  • ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
  • ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
  • ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
  • ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
  • ANK1:ankyrin 1 [Gene - OMIM - HGNC]
  • BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
  • BIN3:bridging integrator 3 [Gene - OMIM - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • CCAR2:cell cycle and apoptosis regulator 2 [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - OMIM - HGNC]
  • CHMP7:charged multivesicular body protein 7 [Gene - OMIM - HGNC]
  • CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
  • CHRNA6:cholinergic receptor nicotinic alpha 6 subunit [Gene - OMIM - HGNC]
  • CHRNB3:cholinergic receptor nicotinic beta 3 subunit [Gene - OMIM - HGNC]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf58:chromosome 8 open reading frame 58 [Gene - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - OMIM - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
  • DEFA1B:defensin alpha 1B [Gene - HGNC]
  • DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
  • DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
  • DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
  • DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - HGNC]
  • DEFB130A:defensin beta 130A [Gene - HGNC]
  • DEFB134:defensin beta 134 [Gene - HGNC]
  • DEFB135:defensin beta 135 [Gene - HGNC]
  • DEFB136:defensin beta 136 [Gene - HGNC]
  • DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [Gene - HGNC]
  • DMTN:dematin actin binding protein [Gene - OMIM - HGNC]
  • DKK4:dickkopf WNT signaling pathway inhibitor 4 [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DOK2:docking protein 2 [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - OMIM - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • EGR3:early growth response 3 [Gene - OMIM - HGNC]
  • ENTPD4:ectonucleoside triphosphate diphosphohydrolase 4 [Gene - OMIM - HGNC]
  • ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
  • EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
  • ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
  • XPO7:exportin 7 [Gene - OMIM - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • FAM86B1:family with sequence similarity 86 member B1 [Gene - OMIM - HGNC]
  • FAM86B2:family with sequence similarity 86 member B2 [Gene - OMIM - HGNC]
  • FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
  • FNTA:farnesyltransferase, CAAX box, alpha [Gene - OMIM - HGNC]
  • FGL1:fibrinogen like 1 [Gene - OMIM - HGNC]
  • FGF17:fibroblast growth factor 17 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [Gene - OMIM - HGNC]
  • FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
  • FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
  • FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • GPAT4:glycerol-3-phosphate acyltransferase 4 [Gene - OMIM - HGNC]
  • GOLGA7:golgin A7 [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
  • HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
  • HOOK3:hook microtubule tethering protein 3 [Gene - OMIM - HGNC]
  • IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
  • IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
  • IKBKB:inhibitor of nuclear factor kappa B kinase subunit beta [Gene - OMIM - HGNC]
  • INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
  • INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • LOXL2:lysyl oxidase like 2 [Gene - OMIM - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MIR320A:microRNA 320a [Gene - OMIM - HGNC]
  • MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MYOM2:myomesin 2 [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
  • NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
  • PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
  • PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
  • PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
  • PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
  • KCNU1:potassium calcium-activated channel subfamily U member 1 [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • PNOC:prepronociceptin [Gene - OMIM - HGNC]
  • POMK:protein O-mannose kinase [Gene - OMIM - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PPP3CC:protein phosphatase 3 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
  • REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - HGNC]
  • RNF170:ring finger protein 170 [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
  • SCARA5:scavenger receptor class A member 5 [Gene - OMIM - HGNC]
  • SFRP1:secreted frizzled related protein 1 [Gene - OMIM - HGNC]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • SMIM19:small integral membrane protein 19 [Gene - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
  • SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
  • SLC25A37:solute carrier family 25 member 37 [Gene - OMIM - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • STC1:stanniocalcin 1 [Gene - OMIM - HGNC]
  • STMN4:stathmin 4 [Gene - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • SFTPC:surfactant protein C [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
  • USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
  • USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • VDAC3:voltage dependent anion channel 3 [Gene - OMIM - HGNC]
  • ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
  • ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
  • ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]
  • ZNF705B:zinc finger protein 705B [Gene - HGNC]
  • ZNF705D:zinc finger protein 705D [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.3-11.1
Genomic location:
Chr8: 176814 - 43396776 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)

Condition(s)

Name:
Abnormal fetal cardiovascular morphology
Synonyms:
Abnormality of the fetal cardiovascular system
Identifiers:
MedGen: C4021210; Human Phenotype Ontology: HP:0010948

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480544Medical Genetics Laboratory, CHRU Nancy
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(Oct 1, 2020) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Medical Genetics Laboratory, CHRU Nancy, SCV001480544.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023