Submissions for variant NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)

gnomAD frequency: 0.00027  dbSNP: rs200847105

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719897	SCV000167478	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310705	SCV000377770	likely benign	Timothy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365427	SCV000377771	likely benign	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460955	SCV000562914	likely benign	Long QT syndrome	2024-01-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124069	SCV001442775	benign	not specified	2020-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719897	SCV001961327	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7
Ambry Genetics	RCV002444585	SCV002680624	likely benign	Cardiovascular phenotype	2017-12-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719897	SCV003799509	benign	not provided	2022-03-28	criteria provided, single submitter	clinical testing