Submissions for variant NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)

gnomAD frequency: 0.00020  dbSNP: rs112170830

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083986	SCV000627516	likely benign	Long QT syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316982	SCV000850862	likely benign	Cardiovascular phenotype	2017-03-29	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	RCV000560728	SCV001148522	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001706105	SCV002572192	benign	not specified	2022-08-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706105	SCV001918647	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000560728	SCV001958144	likely benign	not provided		no assertion criteria provided	clinical testing