ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)

gnomAD frequency: 0.00009  dbSNP: rs181494727
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517384 SCV000615065 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000517384 SCV000723149 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000877963 SCV001020786 benign Hyperkalemic periodic paralysis 2024-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476045 SCV002799821 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 2021-08-16 criteria provided, single submitter clinical testing

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