ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2991A>C (p.Ala997=)

gnomAD frequency: 0.00001  dbSNP: rs780686578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420724 SCV000528365 likely benign not specified 2016-06-06 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 RCV001805051 SCV002052716 likely benign Cardiomyopathy 2021-03-23 criteria provided, single submitter clinical testing
Invitae RCV002525420 SCV003261426 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-02-20 criteria provided, single submitter clinical testing

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