ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1323T>C (p.Ala441=)

dbSNP: rs745795354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428787 SCV000515846 likely benign not specified 2016-07-25 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.
Color Diagnostics, LLC DBA Color Health RCV001188441 SCV001355500 likely benign Cardiomyopathy 2019-12-16 criteria provided, single submitter clinical testing
Invitae RCV002521552 SCV003488146 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-10-06 criteria provided, single submitter clinical testing

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