ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)

gnomAD frequency: 0.02595  dbSNP: rs74943037
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538137 SCV000652973 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 RCV001573918 SCV001897014 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316723 SCV004016551 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573918 SCV001800464 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573918 SCV001809233 likely benign not provided no assertion criteria provided clinical testing

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