ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1266C>T (p.Phe422=) (rs786202823)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165839 SCV000216586 likely benign Hereditary cancer-predisposing syndrome 2014-09-15 criteria provided, single submitter clinical testing
Color RCV000165839 SCV000682852 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000603203 SCV000718582 likely benign not specified 2017-04-17 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 RCV000635511 SCV000756925 likely benign Juvenile polyposis syndrome 2017-10-23 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.