Submissions for variant NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)

gnomAD frequency: 0.01976  dbSNP: rs41287110

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547910	SCV000652974	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	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001552896	SCV001773670	likely benign	not provided	2023-10-12	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316724	SCV004016543	benign	Myeloproliferative disorder, chronic, with eosinophilia	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001552896	SCV005223165	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001796119	SCV002035173	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796119	SCV002036076	benign	not specified		no assertion criteria provided	clinical testing