ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)

gnomAD frequency: 0.00007  dbSNP: rs201781338
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001391335 SCV001005565 likely benign Primary pulmonary hypertension 2023-12-22 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488657 SCV000576302 uncertain significance Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001662473 SCV001877126 likely pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided research

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.