Variants studied for Methylcobalamin deficiency type cblG

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	total
67	31	202	628	67	989

Gene and significance breakdown #

Total genes and gene combinations: 4

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MTR	65	29	200	615	67	970
LOC129932886, MTR	1	1	2	13	0	17
LOC122152347, LOC129932886, MTR	1	0	0	0	0	1
MTRR	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	57	24	196	627	65	969
OMIM	10	0	0	0	0	10
Revvity Omics, Revvity	1	1	6	0	0	8
Genome-Nilou Lab	0	0	0	0	7	7
Mendelics	1	2	0	1	1	5
Elsea Laboratory, Baylor College of Medicine	2	0	1	0	0	3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	3	0	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	0	0	2
New York Genome Center	0	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	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.