ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)

gnomAD frequency: 0.00001  dbSNP: rs758113478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654672 SCV000776571 likely benign Hyperkalemic periodic paralysis 2024-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477460 SCV002801807 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 2022-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140045 SCV003818761 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing

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