Submissions for variant NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)

dbSNP: rs756364065

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253383	SCV000320563	likely benign	Cardiovascular phenotype	2015-12-01	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.
Illumina Laboratory Services, Illumina	RCV000275587	SCV000377878	uncertain significance	Timothy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311551	SCV000377879	uncertain significance	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001705399	SCV000520594	likely benign	not provided	2021-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV000864490	SCV001005297	likely benign	Long QT syndrome	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705399	SCV004132345	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7