ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)

gnomAD frequency: 0.00015  dbSNP: rs183852315
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946344 SCV001092471 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 2025-01-13 criteria provided, single submitter clinical testing

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