Submissions for variant NM_006514.4(SCN10A):c.3990T>G (p.Ser1330=)

gnomAD frequency: 0.00003  dbSNP: rs149685953

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718985	SCV000723990	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377294	SCV002625584	likely benign	Cardiovascular phenotype	2019-04-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002529747	SCV003463015	likely benign	Brugada syndrome	2024-09-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001718985	SCV004698513	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SCN10A: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586828	SCV005076029	benign	not specified	2024-04-28	criteria provided, single submitter	clinical testing