Submissions for variant NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)

gnomAD frequency: 0.00793  dbSNP: rs2228439

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559689	SCV000652972	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	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001550038	SCV001770306	likely benign	not provided	2021-03-12	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316722	SCV004016552	benign	Myeloproliferative disorder, chronic, with eosinophilia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001550038	SCV004157351	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PDGFRB: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001550038	SCV005223188	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235412	SCV005880997	benign	Myofibromatosis, infantile, 1	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001724058	SCV001808338	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724058	SCV001956277	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001550038	SCV001970832	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935506	SCV004747349	benign	PDGFRB-related disorder	2019-07-02	no assertion criteria provided	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).