ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)

gnomAD frequency: 0.00087  dbSNP: rs41287114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949206 SCV001095453 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 2023-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001796825 SCV004157358 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PDGFRB: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796322 SCV002035509 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796825 SCV002038146 likely benign not provided no assertion criteria provided clinical testing

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