ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) (rs143040393)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619240 SCV000736374 uncertain significance Cardiovascular phenotype 2016-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000181179 SCV000233456 likely benign not specified 2017-05-31 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 RCV000457468 SCV000561700 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-05 criteria provided, single submitter clinical testing

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