Variants in gene combination GAMT, NDUFS7

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
1	0	0	7	7	1	8

Condition and significance breakdown #

Total conditions: 8

Download table as spreadsheet

Condition	pathogenic	likely benign	benign	not provided	total
Deficiency of guanidinoacetate methyltransferase	0	3	4	1	7
Leigh syndrome	0	7	0	0	7
Mitochondrial complex I deficiency	0	7	0	0	7
not provided	0	7	6	0	7
Cerebral creatine deficiency syndrome	1	0	2	0	3
not specified	0	2	3	0	3
Inborn genetic diseases	0	0	1	0	1
Mitochondrial complex I deficiency, nuclear type 1	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely benign	benign	not provided	total
GeneDx	0	0	7	0	7
Illumina Laboratory Services, Illumina	0	7	4	0	7
Breakthrough Genomics, Breakthrough Genomics	0	7	0	0	7
Labcorp Genetics (formerly Invitae), Labcorp	1	0	2	0	3
Genetic Services Laboratory, University of Chicago	0	2	0	0	2
PreventionGenetics, part of Exact Sciences	0	0	2	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	0	2
Natera, Inc.	0	0	2	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	1
Ambry Genetics	0	0	1	0	1
GeneReviews	0	0	0	1	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	1	0	1
Genome-Nilou Lab	0	0	1	0	1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	0	1	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.