ClinVar Miner

Variants in gene PDGFRA

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
15 14 1032 472 68 27 1505

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gastrointestinal stromal tumor 10 9 983 396 46 1 1419
Hereditary cancer-predisposing syndrome 0 0 99 71 18 0 187
Idiopathic hypereosinophilic syndrome 0 0 69 16 52 0 137
not provided 0 0 22 74 2 0 98
not specified 0 0 1 0 10 26 36
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 5 0 2 0 0 0 7
Gastrointestinal stromal tumor; Idiopathic hypereosinophilic syndrome 0 0 6 0 0 0 6
Melanoma 0 5 0 0 0 0 5
Cleft palate, isolated 0 0 3 0 0 0 3
Squamous cell lung carcinoma 0 0 1 1 0 0 2
Carcinoma of colon 0 0 0 0 1 0 1
Hypereosinophilic syndrome, idiopathic, resistant to imatinib 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 908 415 25 0 1349
Ambry Genetics 0 0 99 70 18 0 187
Illumina Clinical Services Laboratory,Illumina 0 0 83 36 52 0 136
ITMI 0 0 0 0 0 26 26
Database of Curated Mutations (DoCM) 4 12 0 0 0 1 17
OMIM 12 0 3 0 0 0 15
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 11 0 2 0 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 10 1 2 0 13
PreventionGenetics, PreventionGenetics 0 0 0 0 10 0 10
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 1 1 0 0 2
GeneDx 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 1

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