ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.348A>G (p.Gln116=) (rs137941742)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247614 SCV000318804 likely benign Cardiovascular phenotype 2017-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769502 SCV000900897 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
Color RCV000769502 SCV000913798 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000460259 SCV000561709 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150526 SCV000197730 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Gln116Gln in exon 3 of DSC2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 3/7016 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs137941742).

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