ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.588C>T (p.Cys196=) (rs1801138)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247154 SCV000318134 benign Cardiovascular phenotype 2015-07-15 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
Department of Ophthalmology and Visual Sciences Kyoto University RCV000125427 SCV000172510 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000393076 SCV000432941 benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305392 SCV000432942 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035336 SCV000058984 benign not specified 2011-12-08 criteria provided, single submitter clinical testing Classified as benign based on high population frequency (dbSNP rs1801138, MAF>3%, various cohorts).
PreventionGenetics RCV000035336 SCV000303034 benign not specified 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.