ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3137+4A>G

gnomAD frequency: 0.38064  dbSNP: rs246391
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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 RCV000251507 SCV000309116 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517684 SCV001726238 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 RCV001610630 SCV001832834 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788112 SCV002029515 benign Basal ganglia calcification, idiopathic, 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788113 SCV002029516 benign Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788114 SCV002029517 benign Acroosteolysis-keloid-like lesions-premature aging syndrome 2021-09-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316400 SCV004016539 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251507 SCV001741963 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000251507 SCV001808709 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251507 SCV001958520 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000251507 SCV001973971 benign not specified no assertion criteria provided clinical testing

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