ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1983C>T (p.Asn661=)

gnomAD frequency: 0.00002  dbSNP: rs370216331
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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 RCV000916047 SCV001061277 likely benign Hyperkalemic periodic paralysis 2024-10-29 criteria provided, single submitter clinical testing

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