ClinVar Miner

Variants studied for Bardet-Biedl syndrome 17

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
5 2 14 8 0 29

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 total
LZTFL1 5 2 13 8 28
CCR9, LZTFL1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 0 0 10 8 18
OMIM 4 0 0 0 4
New York Genome Center 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
3billion 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1

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