ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)

gnomAD frequency: 0.00425  dbSNP: rs116171826
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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 RCV000878782 SCV001021746 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 2024-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001692318 SCV001914687 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001692318 SCV004157348 benign not provided 2022-09-01 criteria provided, single submitter clinical testing PDGFRB: BS1, BS2

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