ClinVar Miner

Variants studied for Bardet-Biedl syndrome 12

Coded as:
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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
29 98 175 26 26 319

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 29 98 175 26 26 319

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 12 42 106 7 0 167
Natera, Inc. 8 1 53 14 21 97
Baylor Genetics 20 57 2 0 0 79
Illumina Laboratory Services, Illumina 0 1 31 7 19 58
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 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
3billion 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1

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