Submissions for variant NM_000719.7(CACNA1C):c.135C>G (p.Thr45=)

gnomAD frequency: 0.00007  dbSNP: rs749123185

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718813	SCV000512444	likely benign	not provided	2019-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV000631752	SCV000752842	likely benign	Long QT syndrome	2023-12-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379293	SCV002699600	likely benign	Cardiovascular phenotype	2020-06-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV001718813	SCV003916802	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235206	SCV003934656	likely benign	not specified	2023-05-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897842	SCV004713848	likely benign	CACNA1C-related disorder	2021-02-08	criteria provided, single submitter	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).