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GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000847433.2

Allele description [Variation Report for GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1]

GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1

Genes:
ARFGAP3:ADP ribosylation factor GTPase activating protein 3 [Gene - OMIM - HGNC]
TTLL1:TTL family tubulin polyglutamylase complex subunit L1 [Gene - OMIM - HGNC]
PACSIN2:protein kinase C and casein kinase substrate in neurons 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q13.2
Genomic location:
Chr22: 43225116 - 43495351 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1
HGVS:
NC_000022.10:g.(?_43225116)_(43495351_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000989555Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Sep 22, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bionano Laboratories, SCV000989555.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022