ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)

gnomAD frequency: 0.00003  dbSNP: rs776113877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884794 SCV001028195 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 2022-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910456 SCV004718041 likely benign PDGFRB-related condition 2019-06-19 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579654 SCV001808037 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579654 SCV001969423 likely benign not provided no assertion criteria provided clinical testing

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