ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) (rs2228440)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246961 SCV000309115 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001515545 SCV001723637 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001707588 SCV001935585 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246961 SCV001806924 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000246961 SCV001958370 benign not specified 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.