ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)

gnomAD frequency: 0.00302  dbSNP: rs116642123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952084 SCV001098553 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 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001692327 SCV001906992 benign not provided 2021-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970737 SCV004784275 benign PDGFRB-related condition 2020-03-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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