ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)

gnomAD frequency: 0.00004  dbSNP: rs370594710
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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 RCV000967872 SCV001115293 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 2020-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424504 SCV004157336 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PDGFRB: BP4, BP7

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