ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)

gnomAD frequency: 0.00001  dbSNP: rs367936207
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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 RCV000499684 SCV000596977 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000499684 SCV000615070 likely benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878971 SCV001021967 likely benign Hyperkalemic periodic paralysis 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490840 SCV002804165 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 2022-04-21 criteria provided, single submitter clinical testing

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