ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)

gnomAD frequency: 0.36918  dbSNP: rs246388
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241889 SCV000309117 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517683 SCV001726237 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 RCV001689837 SCV001910163 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788115 SCV002029511 benign Basal ganglia calcification, idiopathic, 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788116 SCV002029513 benign Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788117 SCV002029514 benign Acroosteolysis-keloid-like lesions-premature aging syndrome 2021-09-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316401 SCV004016538 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000241889 SCV001741438 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000241889 SCV001808060 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000241889 SCV001952466 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000241889 SCV001972311 benign not specified no assertion criteria provided clinical testing

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