ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)

gnomAD frequency: 0.00043  dbSNP: rs144234864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884771 SCV001028172 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 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705871 SCV005220867 likely benign not provided criteria provided, single submitter not provided

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