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NM_001177643.2(DAG1):c.-320dup AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 19, 2019
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:
RCV001684087.2

Allele description [Variation Report for NM_001177643.2(DAG1):c.-320dup]

NM_001177643.2(DAG1):c.-320dup

Gene:
DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_001177643.2(DAG1):c.-320dup
HGVS:
  • NC_000003.12:g.49468852dup
  • NG_013230.4:g.3721dup
  • LRG_854:g.3721dup
  • NC_000003.11:g.49506285dup
Links:
dbSNP: rs1553641460
NCBI 1000 Genomes Browser:
rs1553641460

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001898880GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Nov 19, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001898880.1

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

Last Updated: Dec 24, 2023