Submissions for variant NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)

gnomAD frequency: 0.00023  dbSNP: rs200283756

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721097	SCV000223313	likely benign	not provided	2019-04-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242415	SCV000319046	likely benign	Cardiovascular phenotype	2016-06-06	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	RCV000547992	SCV000627564	benign	Long QT syndrome	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001721097	SCV002048908	benign	not provided	2022-02-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003398877	SCV004121852	benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721097	SCV004132357	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001721097	SCV005213580	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003965227	SCV004776628	likely benign	CACNA1C-related disorder	2024-02-08	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).