Submissions for variant NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)

gnomAD frequency: 0.07088  dbSNP: rs17110944

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891912	SCV000309118	benign	PDGFRB-related disorder	2022-06-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Invitae	RCV000551181	SCV000652980	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	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001573749	SCV001912355	benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316402	SCV004016546	benign	Myeloproliferative disorder, chronic, with eosinophilia	2023-07-07	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573749	SCV001800065	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573749	SCV001809440	likely benign	not provided		no assertion criteria provided	clinical testing