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
49 17 2318 1658 208 59 3914

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gastrointestinal stromal tumor 8 1 1839 1291 62 0 3171
Hereditary cancer-predisposing syndrome 0 1 1126 835 89 0 2031
not provided 0 0 187 73 80 0 324
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 5 0 172 0 0 4 177
Idiopathic hypereosinophilic syndrome 0 0 74 13 50 0 136
PDGFRA-related disorder 0 0 35 54 1 0 90
not specified 0 0 4 8 22 25 54
Idiopathic hypereosinophilic syndrome; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 33 0 0 0 33
Diffuse glioma, H3 G34 mutant 18 1 0 0 0 0 19
Diffuse midline glioma, H3 K27M-mutant 11 4 0 0 0 0 15
Ovarian cancer 0 5 0 0 6 1 12
Ovarian serous cystadenocarcinoma 0 0 0 0 0 12 12
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 5 1 0 0 0 0 6
Gastrointestinal stromal tumor; Idiopathic hypereosinophilic syndrome 0 0 6 0 0 0 6
Cholangiocarcinoma 0 0 0 0 0 3 3
Glioma susceptibility 1 0 0 0 0 0 3 3
Isolated cleft palate 0 0 3 0 0 0 3
Myeloproliferative neoplasm, unclassifiable 1 2 0 0 0 0 3
Neoplasm 2 1 0 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Astrocytoma IDH-mutant 2 0 0 0 0 0 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 1 1 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adenocarcinoma of the large intestine 0 1 0 0 0 0 1
Carcinoma of colon 0 0 0 0 1 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary cancer 0 0 0 1 0 0 1
Hypereosinophilic syndrome, idiopathic, resistant to imatinib 1 0 0 0 0 0 1
IDH-wildtype glioblastoma 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Lung sarcomatoid carcinoma 0 0 1 0 0 0 1
Malignant glioma 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Myxoid glioneuronal tumor 1 0 0 0 0 0 1
Primary brain neoplasm 1 0 0 0 0 0 1
Primary intracranial sarcoma, DICER1-mutant 1 0 0 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1770 1273 50 0 3094
Ambry Genetics 0 1 1113 828 88 0 2030
GeneDx 0 0 158 29 64 0 251
Baylor Genetics 0 0 162 0 0 0 162
Illumina Laboratory Services, Illumina 0 0 77 33 50 0 126
PreventionGenetics, part of Exact Sciences 0 0 35 54 11 0 100
Breakthrough Genomics, Breakthrough Genomics 0 0 3 15 45 0 63
CeGaT Center for Human Genetics Tuebingen 0 0 5 33 9 0 47
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 38 7 1 0 0 0 46
Sema4, Sema4 0 0 16 19 5 0 40
Fulgent Genetics, Fulgent Genetics 0 0 39 0 0 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 30 30
ITMI 0 0 0 0 0 25 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 7 6 0 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 8 7 0 19
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 18 1 0 0 19
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
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 5 0 0 6 0 11
Revvity Omics, Revvity 0 0 11 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 0 7 3 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 9 0 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 7 0 8
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 1 0 0 1 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Mendelics 0 1 0 1 0 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 2 0 0 0 2
National Institute of Cancer Research, National Health Research Institutes 2 0 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Dasa 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 0 1 0 0 1
Salgia Laboratory, City of Hope 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 1

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