Submissions for variant NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)

gnomAD frequency: 0.00001  dbSNP: rs561224137

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000345641	SCV000377768	likely benign	Timothy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390000	SCV000377769	likely benign	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000436421	SCV000518603	benign	not specified	2015-09-21	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	RCV000552154	SCV000627576	likely benign	Long QT syndrome	2024-12-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000436421	SCV002600823	benign	not specified	2022-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356419	SCV002647954	likely benign	Cardiovascular phenotype	2022-07-10	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.