ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2643G>A (p.Leu881=)

dbSNP: rs1057520546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432067 SCV000515972 likely benign not specified 2015-12-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766208 SCV004592548 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996020 SCV004834918 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-06 criteria provided, single submitter clinical testing

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