ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)

gnomAD frequency: 0.00048  dbSNP: rs199713025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696982 SCV000620106 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000524957 SCV000658551 likely benign Hyperkalemic periodic paralysis 2023-11-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001696982 SCV003821312 benign not provided 2023-04-13 criteria provided, single submitter clinical testing

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