ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu)

dbSNP: rs147610324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992894 SCV001145482 uncertain significance not provided 2018-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489478 SCV002785740 uncertain significance 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 2021-12-30 criteria provided, single submitter clinical testing

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