ClinVar Miner

Variants studied for Bardet-Biedl syndrome 5

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
12 3 2 0 0 17

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BBS5 12 3 2 17

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Baylor Genetics 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 1 1 2
Human Genetics - Radboudumc,Radboudumc 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1

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