ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2955C>T (p.Pro985=)

gnomAD frequency: 0.00026  dbSNP: rs375621334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610965 SCV000721772 likely benign not specified 2017-08-02 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.
Invitae RCV001468376 SCV001672422 likely benign Hyperkalemic periodic paralysis 2023-11-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139915 SCV003818684 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing

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