ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)

gnomAD frequency: 0.00019  dbSNP: rs372002602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501330 SCV000596975 likely benign not specified 2016-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654688 SCV000776587 likely benign Hyperkalemic periodic paralysis 2025-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496955 SCV002809477 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 2021-11-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704028 SCV005211221 likely benign not provided criteria provided, single submitter not provided

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