ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.483-5C>G

dbSNP: rs191547933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724873 SCV000230070 uncertain significance not provided 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000724873 SCV000526746 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079340 SCV000658589 benign Familial hyperkalemic periodic paralysis 2025-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724873 SCV003821321 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537458 SCV004754481 likely benign SCN4A-related disorder 2019-12-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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