Submissions for variant NM_006514.4(SCN10A):c.2972C>T (p.Pro991Leu)

gnomAD frequency: 0.00068  dbSNP: rs138413438

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232312	SCV000289551	likely benign	Brugada syndrome	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000601861	SCV000716286	likely benign	not specified	2017-02-27	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.
Ambry Genetics	RCV002436035	SCV002746188	likely benign	Cardiovascular phenotype	2019-06-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV003437026	SCV004154210	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SCN10A: PM5, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000601861	SCV005202382	likely benign	not specified	2024-07-28	criteria provided, single submitter	clinical testing