Submissions for variant NM_201596.3(CACNB2):c.915T>C (p.Phe305=)

gnomAD frequency: 0.00282  dbSNP: rs149586418

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170856	SCV000223411	benign	not specified	2014-10-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474395	SCV000562850	benign	Brugada syndrome 4	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617740	SCV000735162	likely benign	Cardiovascular phenotype	2015-11-05	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	RCV000474395	SCV002799169	likely benign	Brugada syndrome 4	2022-02-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000170856	SCV005077326	benign	not specified	2024-04-08	criteria provided, single submitter	clinical testing