ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)

gnomAD frequency: 0.00001  dbSNP: rs138830253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765041 SCV001989606 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 35326522)
Fulgent Genetics, Fulgent Genetics RCV002496084 SCV002800878 uncertain significance Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2021-10-18 criteria provided, single submitter clinical testing
Invitae RCV002540233 SCV003514673 likely 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 2022-07-06 criteria provided, single submitter clinical testing

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