ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=)

gnomAD frequency: 0.00001  dbSNP: rs376395544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500185 SCV001704967 likely benign Hyperkalemic periodic paralysis 2022-10-17 criteria provided, single submitter clinical testing

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