Submissions for variant NM_001365536.1(SCN9A):c.3207C>T (p.His1069=)

gnomAD frequency: 0.00010  dbSNP: rs200689065

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721336	SCV000529964	likely benign	not provided	2021-03-11	criteria provided, single submitter	clinical testing
Invitae	RCV000862396	SCV001002899	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7	2024-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323637	SCV002610064	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003942420	SCV004757827	likely benign	SCN9A-related condition	2019-11-12	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000438278	SCV001921052	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001721336	SCV001954264	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001721336	SCV001965972	likely benign	not provided		no assertion criteria provided	clinical testing