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
20 10 24 6 1 57

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 total
BBS5 18 9 22 6 0 51
BBS5, LOC129935068 2 1 2 0 1 6

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 3 20 6 0 30
OMIM 6 0 0 0 0 6
New York Genome Center 0 0 4 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 0 0 0 4
Baylor Genetics 1 0 1 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 2
3billion 0 1 1 0 0 2
DBGen Ocular Genomics 2 0 0 0 0 2
Laboratory of Nephrology, Qingdao Municipal Hospital 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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