ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)

gnomAD frequency: 0.00003  dbSNP: rs267604989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953908 SCV001100506 likely benign Hyperkalemic periodic paralysis 2022-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498354 SCV002813610 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-12-27 criteria provided, single submitter clinical testing

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