ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)

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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 RCV003780909 SCV004569118 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 2022-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956560 SCV004775453 likely benign PDGFRB-related disorder 2019-07-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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