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
60	31	199	584	66	933

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MTR	58	29	197	571	66	914
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

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	49	25	193	583	64	914
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	0	0	2
New York Genome Center	0	1	1	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1

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