ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)

gnomAD frequency: 0.00834  dbSNP: rs2229558
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000420025 SCV000511179 likely benign not provided 2016-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084340 SCV000652971 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 2024-01-29 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199248 SCV001370298 benign Basal ganglia calcification, idiopathic, 4 2019-04-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
GeneDx RCV000420025 SCV001960682 benign not provided 2019-04-02 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316523 SCV004016554 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000420025 SCV004157354 benign not provided 2024-02-01 criteria provided, single submitter clinical testing PDGFRB: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000420025 SCV005223210 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796032 SCV002035251 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000420025 SCV002035770 likely benign not provided no assertion criteria provided clinical testing

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