ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*11C>T (rs11663402)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770700 SCV000902177 likely benign Thoracic aortic aneurysm and aortic dissection 2017-03-09 criteria provided, single submitter clinical testing
Color RCV000581104 SCV000686509 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000128174 SCV000171766 benign not specified 2013-11-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000398463 SCV000409108 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281314 SCV000409109 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338717 SCV000409110 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000128174 SCV000692041 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000128174 SCV000311017 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.