Submissions for variant NM_006514.4(SCN10A):c.2709C>T (p.Asp903=)

gnomAD frequency: 0.00016  dbSNP: rs368637625

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549331	SCV000637010	likely benign	Brugada syndrome	2024-08-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001584268	SCV001811511	likely benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431590	SCV002743513	likely benign	Cardiovascular phenotype	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.
Fulgent Genetics, Fulgent Genetics	RCV002497116	SCV002807367	likely benign	Episodic pain syndrome, familial, 2	2021-07-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001584268	SCV005434340	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SCN10A: BP4, BP7