ClinVar Miner

Variants studied for Bardet-Biedl syndrome 7

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
8 1 2 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BBS7 8 1 2 10

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 0 1
Department of Medical Genetics, Faculty of Medicine,Ege University 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 1

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