ClinVar Miner

Variants studied for Methylcobalamin deficiency type cblG

Coded as:
Minimum submission review status: Collection method:
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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
67 31 202 628 67 989

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 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
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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

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