ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5517G>A (p.Leu1839=)

gnomAD frequency: 0.00001  dbSNP: rs1484873778
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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 RCV003657114 SCV001635234 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006987 SCV004843864 likely benign Cardiac arrhythmia 2023-11-20 criteria provided, single submitter clinical testing

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