Submissions for variant NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)

gnomAD frequency: 0.00017  dbSNP: rs368065584

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000251364	SCV000319054	likely benign	Cardiovascular phenotype	2018-11-27	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.
Invitae	RCV000467797	SCV000562881	likely benign	Long QT syndrome	2024-01-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812756	SCV001473115	likely benign	not provided	2020-02-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002307472	SCV002600821	benign	not specified	2022-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812756	SCV004129709	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003909881	SCV004723695	likely benign	CACNA1C-related disorder	2024-02-23	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).