Submissions for variant NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)

gnomAD frequency: 0.00236  dbSNP: rs41287108

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000337800	SCV000339805	likely benign	not specified	2016-03-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000650692	SCV000772539	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	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001579776	SCV001884182	benign	not provided	2021-05-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316463	SCV004016550	likely benign	Myeloproliferative disorder, chronic, with eosinophilia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579776	SCV004157339	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	PDGFRB: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001579776	SCV005220878	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235251	SCV005880998	benign	Myofibromatosis, infantile, 1	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579776	SCV001808476	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579776	SCV001973810	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001579776	SCV002035721	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909983	SCV004722348	likely benign	PDGFRB-related disorder	2019-04-12	no assertion criteria provided	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).