ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5448G>C (p.Leu1816=)

dbSNP: rs1270969886
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641834 SCV000763484 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-10-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183059 SCV001348714 likely benign Cardiomyopathy 2019-09-09 criteria provided, single submitter clinical testing

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