Variants studied for 2-hydroxyglutaric aciduria

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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	total
31	3	53	18	11	115

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	45	16	9	82
L2HGDH	11	1	5	1	0	18
SLC25A1	6	0	0	0	0	6
IDH2	2	0	0	1	1	4
DMAC2L, L2HGDH	0	0	1	0	1	2
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: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	42	16	8	66
OMIM	22	0	0	0	0	22
Invitae	4	1	7	2	3	17
Genetic Services Laboratory, University of Chicago	6	2	3	0	0	11
Fulgent Genetics	1	0	2	0	0	3
Baylor Miraca Genetics Laboratories,	1	0	0	0	0	1
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1

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