ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Val572_Ser573insGluLeuIleArgTrpLysValIleGluSerVal)

dbSNP: rs1760270922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Demoulin lab, University of Louvain RCV001249587 SCV001423556 pathogenic Infantile myofibromatosis 2018-08-10 criteria provided, single submitter research The mutation strongly activates PDGFRB signaling in in vitro assays (gain of function).

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