ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6879A>G (p.Glu2293=)

gnomAD frequency: 0.00001  dbSNP: rs1327990933
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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 RCV001182894 SCV001348493 likely benign Cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001464565 SCV001668538 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-05 criteria provided, single submitter clinical testing

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