ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1230C>T (p.Ala410=)

gnomAD frequency: 0.00001  dbSNP: rs766518794
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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 RCV003766983 SCV000637074 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841451 SCV001347620 likely benign Cardiac arrhythmia 2019-05-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841451 SCV004826401 likely benign Cardiac arrhythmia 2023-12-01 criteria provided, single submitter clinical testing

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