ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7102T>C (p.Leu2368=)

gnomAD frequency: 0.00001  dbSNP: rs1581823488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524497 SCV001734367 likely benign Cardiomyopathy 2020-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568784 SCV003240386 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-10-07 criteria provided, single submitter clinical testing

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