Variants studied for 3-Methylglutaconic aciduria type 3

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
5	15	201	18	36	4	272

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OPA3	4	12	196	17	33	3	259
LOC130064709, OPA3	1	3	5	1	3	0	12
DNAJC19	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	165	17	33	0	214
Counsyl	0	6	29	0	0	0	35
Natera, Inc.	1	1	6	1	2	0	11
Baylor Genetics	1	7	2	0	0	0	10
OMIM	4	0	0	0	0	0	4
Genome-Nilou Lab	0	0	0	0	4	0	4
GeneReviews	0	0	0	0	0	3	3
Suma Genomics	1	0	1	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Mendelics	0	0	1	0	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Myriad Genetics, Inc.	1	0	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1

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