ClinVar Miner

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

gnomAD frequency: 0.09078  dbSNP: rs2228440
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246961 SCV000309115 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515545 SCV001723637 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 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001707588 SCV001935585 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788109 SCV002029518 benign Basal ganglia calcification, idiopathic, 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788110 SCV002029519 benign Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788111 SCV002029520 benign Acroosteolysis-keloid-like lesions-premature aging syndrome 2021-09-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316399 SCV004016544 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246961 SCV001806924 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000246961 SCV001958370 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246961 SCV001971963 benign not specified no assertion criteria provided clinical testing

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