ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)

gnomAD frequency: 0.00523  dbSNP: rs149417689
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 RCV000525984 SCV000652978 benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001565252 SCV001788564 likely benign not provided 2022-07-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316726 SCV004016548 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 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.