ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)

gnomAD frequency: 0.00006  dbSNP: rs150307926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000654693 SCV000732873 likely benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Invitae RCV002531729 SCV000776592 likely benign Hyperkalemic periodic paralysis 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498992 SCV002804511 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 2022-02-10 criteria provided, single submitter clinical testing

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