ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)

gnomAD frequency: 0.00004  dbSNP: rs80266947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429964 SCV000526603 likely benign not specified 2016-05-02 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 RCV001087609 SCV001016997 likely benign Familial hyperkalemic periodic paralysis 2024-01-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000874771 SCV001145475 benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506048 SCV002812597 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-03-09 criteria provided, single submitter clinical testing

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