ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.966-8G>A

gnomAD frequency: 0.00003  dbSNP: rs199942413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607250 SCV000722341 likely benign not specified 2017-08-31 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 RCV000647804 SCV000769607 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2025-01-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701101 SCV001922182 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701101 SCV001955711 likely benign not provided no assertion criteria provided clinical testing

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