ClinVar Miner

Variants studied for TBCK-related intellectual disability syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
10 2 1 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TBCK 10 2 1 12

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 8 0 0 8
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 1 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 2
TIDEX,University of British Columbia 0 1 1 2
Fulgent Genetics 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1
Undiagnosed Diseases Network,NIH 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 1

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