Submissions for variant NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)

gnomAD frequency: 0.00032  dbSNP: rs201430964

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713169	SCV000514586	likely benign	not provided	2018-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080759	SCV000649305	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7	2025-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713169	SCV000843748	likely benign	not provided	2017-10-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000713169	SCV000856336	uncertain significance	not provided	2017-08-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436253	SCV002746078	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: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004800402	SCV005423636	likely benign	not specified	2024-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713169	SCV005435728	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	SCN9A: BP4, BP7