ClinVar Miner

Variants in gene IDH2

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 risk factor total
3 4 118 76 38 4 226

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
D-2-hydroxyglutaric aciduria 2 2 2 82 62 21 0 165
not provided 1 1 24 14 22 0 59
not specified 0 0 9 11 2 0 22
Inborn genetic diseases 1 0 12 2 0 0 15
IDH2-related disorder 0 0 0 5 1 0 6
Acute myocardial infarction 0 0 0 0 0 4 4
Enchondromatosis 0 0 2 0 0 0 2
Maffucci syndrome 0 1 0 0 0 0 1
Mitochondrial disease 0 0 1 0 0 0 1
Teratoma 0 0 1 0 0 0 1
Vascular malformation 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 77 63 21 0 162
GeneDx 1 1 21 1 19 0 43
Genetic Services Laboratory, University of Chicago 1 0 6 11 1 0 19
Ambry Genetics 1 0 12 2 0 0 15
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 7 0 13
CeGaT Center for Human Genetics Tuebingen 0 0 3 5 2 0 10
PreventionGenetics, part of Exact Sciences 0 0 0 5 1 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 4 0 0 0 5
Clinical Pathology, Faculty of Medicine, Tanta University 0 0 0 0 0 4 4
Baylor Genetics 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 2 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
OMIM 2 0 0 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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