ClinVar Miner

Variants studied for Transcobalamin II deficiency

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 not provided total
45 7 220 328 45 2 617

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCN2 44 7 201 310 41 2 576
LOC121853040, TCN2 1 0 19 18 4 0 41

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 5 177 314 34 0 568
Illumina Laboratory Services, Illumina 0 1 45 12 24 0 82
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 6 4 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Revvity Omics, Revvity Omics 1 0 2 0 0 0 3
Mendelics 1 0 0 0 2 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1

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