ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1243+4A>T

dbSNP: rs573720818
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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 RCV005208620 SCV001022427 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 2024-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948287 SCV004765399 likely benign PDGFRB-related disorder 2023-06-06 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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