Submissions for variant NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)

gnomAD frequency: 0.00287  dbSNP: rs41287112

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000335817	SCV000339101	benign	not specified	2017-06-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514246	SCV000610881	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV001079189	SCV001021720	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	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000514246	SCV001846882	benign	not provided	2019-08-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30819905, 30761385, 27626691, 26494726)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316462	SCV004016549	likely benign	Myeloproliferative disorder, chronic, with eosinophilia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514246	SCV004157356	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	PDGFRB: BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000514246	SCV001809043	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514246	SCV001975833	likely benign	not provided		no assertion criteria provided	clinical testing