ClinVar Miner

Variants in gene PDGFRA

Minimum submission review status: Collection method:
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Gene type:
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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
12 12 457 221 39 27 717

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gastrointestinal stroma tumor 9 7 447 221 36 1 703
Idiopathic hypereosinophilic syndrome 0 0 39 39 14 0 92
not specified 0 0 1 0 10 26 36
not provided 0 0 13 0 2 0 15
Gastrointestinal stroma tumor; Idiopathic hypereosinophilic syndrome 0 0 6 0 0 0 6
Cutaneous melanoma 0 5 0 0 0 0 5
Cleft palate, isolated 0 0 3 0 0 0 3
Gastrointestinal stromal tumor, familial 3 0 0 0 0 0 3
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1
Hypereosinophilic syndrome, idiopathic, resistant to imatinib 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 412 186 23 0 621
Illumina Clinical Services Laboratory,Illumina 0 0 39 39 14 0 92
ITMI 0 0 0 0 0 26 26
Database of Curated Mutations (DoCM) 4 12 0 0 0 1 17
OMIM 10 0 3 0 0 0 13
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 11 0 2 0 13
PreventionGenetics 0 0 0 0 10 0 10
Fulgent Genetics 0 0 6 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
GeneDx 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 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

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