ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) (rs1051421)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035333 SCV000058981 benign not specified 2016-03-30 criteria provided, single submitter clinical testing p.Tyr1176Tyr in exon 26 of JAG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 28% (18682/66732) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs1051421).
PreventionGenetics,PreventionGenetics RCV000035333 SCV000303028 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245407 SCV000317524 benign Cardiovascular phenotype 2015-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000305764 SCV000432879 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359120 SCV000432880 benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing

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.