Submissions for variant NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)

gnomAD frequency: 0.00025  dbSNP: rs370576211

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245282	SCV000305448	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726270	SCV000343332	uncertain significance	not provided	2016-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000245282	SCV000515386	likely benign	not specified	2016-02-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078611	SCV001008574	benign	Long QT syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002347952	SCV002622682	likely benign	Cardiovascular phenotype	2017-12-27	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245282	SCV003929074	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing