ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2085G>A (p.Leu695=)

gnomAD frequency: 0.00001  dbSNP: rs781573464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003655314 SCV001005177 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842529 SCV001339746 likely benign Cardiac arrhythmia 2018-11-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842529 SCV004831721 likely benign Cardiac arrhythmia 2023-07-10 criteria provided, single submitter clinical testing

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