ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) (rs183156491)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121682 SCV000228255 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing
Invitae RCV000233584 SCV000290272 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246848 SCV000319511 likely benign Cardiovascular phenotype 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in small case-control study,Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000121682 SCV000520856 likely benign not specified 2018-02-28 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.
Center for Human Genetics, Inc RCV000660161 SCV000782155 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000988295 SCV001137963 benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121682 SCV000085880 not provided not specified 2013-09-19 no assertion provided reference population

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.