Submissions for variant NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)

gnomAD frequency: 0.00003  dbSNP: rs754527651

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000352727	SCV000337057	uncertain significance	not provided	2015-10-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619626	SCV000738020	likely benign	Cardiovascular phenotype	2017-05-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081369	SCV001004852	likely benign	Long QT syndrome	2025-01-27	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256871	SCV001433363	benign	not specified	2020-03-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000352727	SCV001870232	likely benign	not provided	2020-03-26	criteria provided, single submitter	clinical testing