Submissions for variant NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu)

gnomAD frequency: 0.14908  dbSNP: rs58225473

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000124111	SCV000050811	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000124111	SCV000167520	benign	not specified	2011-07-11	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.
Eurofins Ntd Llc (ga)	RCV000124111	SCV000225950	benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124111	SCV000317158	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253056	SCV000317858	benign	Cardiovascular phenotype	2015-04-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000860347	SCV001000374	benign	Brugada syndrome 4	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717995	SCV005320485	benign	not provided		criteria provided, single submitter	not provided