ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2616C>T (p.Cys872=) (rs61731920)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039427 SCV000063111 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Cys872Cys in Exon 16 of DSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.6% (21/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61731920).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039427 SCV000335084 likely benign not specified 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000039427 SCV000512863 benign not specified 2015-06-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000467067 SCV000561710 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771843 SCV000904557 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000467067 SCV001285658 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-12-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000467067 SCV000733771 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing

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