ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)

gnomAD frequency: 0.00159  dbSNP: rs148974733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526323 SCV000652975 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 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579380 SCV004157347 benign not provided 2022-04-01 criteria provided, single submitter clinical testing PDGFRB: BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579380 SCV001807017 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579380 SCV001969702 likely benign not provided no assertion criteria provided clinical testing

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