Submissions for variant NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=)

gnomAD frequency: 0.00006  dbSNP: rs368073321

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425308	SCV000523760	likely benign	not specified	2016-10-04	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	RCV000620781	SCV000737408	likely benign	Cardiovascular phenotype	2017-02-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000631808	SCV000752902	benign	Long QT syndrome	2023-12-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000425308	SCV001922061	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723995	SCV001958899	likely benign	not provided		no assertion criteria provided	clinical testing