ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.267A>C (p.Ile89=)

dbSNP: rs200809157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498571 SCV001703321 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV003325577 SCV004032004 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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