Variants studied for D-2-hydroxyglutaric aciduria 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	not provided	total
17	3	159	116	50	1	322

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
D2HGDH	14	3	132	103	43	1	272
D2HGDH, LOC129936031	1	0	13	6	3	0	23
D2HGDH, LOC129936032	0	0	5	6	2	0	13
D2HGDH, LOC129936033	0	0	7	1	2	0	10
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F	1	0	1	0	0	0	2
D2HGDH, LOC129389016	1	0	0	0	0	0	1
GJB1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	10	2	86	106	32	0	236
Illumina Laboratory Services, Illumina	0	0	76	9	30	0	115
Baylor Genetics	1	0	8	0	0	0	9
OMIM	7	0	0	0	0	0	7
Genome-Nilou Lab	0	0	0	0	7	0	7
Genetic Services Laboratory, University of Chicago	1	0	1	1	0	0	3
Fulgent Genetics, Fulgent Genetics	1	0	1	1	0	0	3
Mendelics	0	0	0	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
Elsea Laboratory, Baylor College of Medicine	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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