ClinVar Miner

Variants studied for Methylcobalamin deficiency type cblG

Coded as:
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Gene type:
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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
59 30 199 584 66 931

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 total
MTR 57 29 197 571 66 913
LOC129932886, MTR 1 1 2 13 0 17
LOC122152347, LOC129932886, MTR 1 0 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 48 25 193 583 64 913
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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