ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)

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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 RCV002867203 SCV003238341 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 2023-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747139 SCV005349097 likely benign PDGFRB-related disorder 2024-09-16 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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