ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)

dbSNP: rs530640921
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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 RCV000654677 SCV000776576 benign Familial hyperkalemic periodic paralysis 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493060 SCV002802886 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-12-02 criteria provided, single submitter clinical testing

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