ClinVar Miner

Variants studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
35 6 120 24 55 228

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
D2HGDH 11 2 94 12 37 146
L2HGDH 14 1 14 4 5 38
IDH2 2 2 9 7 11 30
SLC25A1 7 1 0 0 0 7
DMAC2L, L2HGDH 0 0 1 1 2 4
GJB1 0 0 1 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 1
L2HGDH, LINC01588, LINC01599, LOC100506499, SOS2, VCPKMT 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 78 9 30 116
Invitae 8 1 36 15 32 92
OMIM 22 0 0 0 0 22
Genetic Services Laboratory,University of Chicago 6 2 3 0 0 11
Mendelics 0 1 0 0 3 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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