ClinVar Miner

Submissions for variant NC_000002.12:g.(?_202467499)_(202514999_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551887 SCV000629974 pathogenic Pulmonary hypertension, primary, 1 2017-02-20 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 3-5 of the BMPR2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001390567 SCV001592320 pathogenic Primary pulmonary hypertension 2017-02-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant is an out-of-frame deletion of the genomic region encompassing exons 3-5 of the BMPR2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product.

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.