Submissions for variant NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)

gnomAD frequency: 0.00130  dbSNP: rs2229560

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000878806	SCV001021774	likely 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	RCV001573941	SCV001913467	benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29868112)
CeGaT Center for Human Genetics Tuebingen	RCV001573941	SCV004157359	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PDGFRB: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003938402	SCV004758667	likely benign	PDGFRB-related condition	2019-03-11	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573941	SCV001800543	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573941	SCV001807941	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573941	SCV001977798	likely benign	not provided		no assertion criteria provided	clinical testing