ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) (rs375527314)

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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 RCV000244028 SCV000318248 uncertain significance Cardiovascular phenotype 2013-02-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000756038 SCV000561386 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756038 SCV000883743 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing
Color RCV000772087 SCV000905120 likely benign Cardiomyopathy 2018-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000756038 SCV000969144 likely benign not provided 2018-05-30 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.

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