ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) (rs150946485)

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
GeneDx RCV000212147 SCV000167202 benign not specified 2014-01-03 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.
Ambry Genetics RCV000131422 SCV000186403 benign Hereditary cancer-predisposing syndrome 2014-11-25 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
Invitae RCV000204136 SCV000260952 benign Juvenile polyposis syndrome 2018-01-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212147 SCV000600213 benign not specified 2017-01-15 criteria provided, single submitter clinical testing
Color RCV000131422 SCV000682854 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759477 SCV000888818 benign not provided 2017-01-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131422 SCV000787888 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided 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.