Submissions for variant NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=)

gnomAD frequency: 0.00004  dbSNP: rs780871697

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546693	SCV000627558	likely benign	Long QT syndrome	2023-12-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001540683	SCV001758589	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341263	SCV002642325	likely benign	Cardiovascular phenotype	2019-04-03	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.
PreventionGenetics, part of Exact Sciences	RCV003925592	SCV004742869	likely benign	CACNA1C-related disorder	2019-09-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).