ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)

gnomAD frequency: 0.26470  dbSNP: rs246395
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891911 SCV000309114 benign PDGFRB-related disorder 2022-06-08 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Labcorp Genetics (formerly Invitae), Labcorp RCV001517685 SCV001726239 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 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001541442 SCV001759441 benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788106 SCV002029521 benign Basal ganglia calcification, idiopathic, 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788107 SCV002029522 benign Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788108 SCV002029524 benign Acroosteolysis-keloid-like lesions-premature aging syndrome 2021-09-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316398 SCV004016540 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000242001 SCV001808878 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242001 SCV001952386 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000242001 SCV001964152 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.