Submissions for variant NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) (rs150092451)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 5

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000284448	SCV000377850	likely benign	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000341571	SCV000377851	likely benign	Timothy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000428070	SCV000512453	benign	not specified	2015-03-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000474393	SCV000562913	benign	not provided	2019-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621492	SCV000735771	likely benign	Cardiovascular phenotype	2017-02-10	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.