ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003429886 SCV004157343 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PDGFRB: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778434 SCV004595676 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 2022-12-28 criteria provided, single submitter clinical testing

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