ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4056G>A (p.Val1352=)

gnomAD frequency: 0.00001  dbSNP: rs781573686
Minimum review status: Collection method:
Minimum conflict level:
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 RCV003657126 SCV001640912 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842033 SCV001735744 likely benign Cardiac arrhythmia 2020-07-13 criteria provided, single submitter clinical testing

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