Submissions for variant NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=)

gnomAD frequency: 0.00200  dbSNP: rs116491041

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124072	SCV000167481	benign	not specified	2012-04-17	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	RCV000254163	SCV000318436	likely benign	Cardiovascular phenotype	2016-12-21	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.
Invitae	RCV000474191	SCV000562919	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000124072	SCV001159445	benign	not specified	2019-03-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390811	SCV004129713	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7, BS1