ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=)

gnomAD frequency: 0.00004  dbSNP: rs143342011
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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 RCV002215218 SCV002362076 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 2023-12-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707751 SCV005220890 likely benign not provided criteria provided, single submitter not provided

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