ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)

gnomAD frequency: 0.00347  dbSNP: rs113277954
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698236 SCV000526749 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000541037 SCV000658595 benign Hyperkalemic periodic paralysis 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000431218 SCV001476859 benign not specified 2024-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481315 SCV002799021 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 2021-07-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698236 SCV005211220 likely benign not provided criteria provided, single submitter not provided

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