ClinVar Miner

Variants studied for BBS12-related ciliopathy

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
28 79 123 25 26 249

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS12 28 79 123 25 26 249

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 8 1 53 14 21 97
Baylor Genetics 20 57 2 0 0 79
Fulgent Genetics, Fulgent Genetics 8 14 44 6 0 72
Illumina Laboratory Services, Illumina 1 1 33 7 19 61
Counsyl 3 24 28 0 0 55
Revvity Omics, Revvity 3 4 1 0 0 8
Genome-Nilou Lab 0 0 5 2 1 8
Pars Genome Lab 0 0 1 0 7 8
New York Genome Center 1 0 5 0 0 6
OMIM 5 0 0 0 0 5
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 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 0 1 0 0 0 1

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