ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)

gnomAD frequency: 0.00013  dbSNP: rs141511317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946024 SCV001092108 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 2024-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424486 SCV004157335 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PDGFRB: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003424486 SCV005220823 likely benign not provided criteria provided, single submitter not provided

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