ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2223C>T (p.Arg741=)

gnomAD frequency: 0.00001  dbSNP: rs1041781133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418249 SCV000527475 likely benign not specified 2016-05-26 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 RCV000553850 SCV000658530 likely benign Familial hyperkalemic periodic paralysis 2023-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288740 SCV001476057 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing

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