ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)

gnomAD frequency: 0.00001  dbSNP: rs372555830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490025 SCV001694580 likely benign Hyperkalemic periodic paralysis 2022-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506567 SCV002811448 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 2021-11-03 criteria provided, single submitter clinical testing

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