ClinVar Miner

Variants studied for Bardet-Biedl syndrome 12

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
10 26 33 0 0 65

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BBS12 10 26 33 65

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Counsyl 2 24 28 54
OMIM 5 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 1 3 4
Genetic Services Laboratory, University of Chicago 1 1 0 2
Fulgent Genetics 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 1 1

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