ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val)

gnomAD frequency: 0.00001  dbSNP: rs773489142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516454 SCV000615081 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481685 SCV002788518 uncertain significance 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 2021-12-22 criteria provided, single submitter clinical testing

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