ClinVar Miner

Variants studied for Bardet-Biedl syndrome 1

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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 not provided total
39 50 102 23 61 1 248

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS1, ZDHHC24 23 25 73 4 14 1 130
BBS1 9 23 28 5 6 0 66
BBS12 0 0 1 2 13 0 14
BBS9 1 0 0 4 9 0 10
BBS2 0 0 0 3 7 0 7
BBS10 3 2 0 1 1 0 6
BBS7 0 0 0 1 5 0 5
BBS4 0 0 0 1 3 0 4
WDPCP 0 0 0 2 3 0 3
LZTFL1 2 0 0 0 0 0 2
BBIP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 55 5 11 0 72
Counsyl 4 35 12 2 0 0 53
Natera, Inc. 4 1 35 2 11 0 53
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 1 8 27 0 38
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 3 24 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 16 0 19
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 13 0 17
Baylor Genetics 5 2 7 0 0 0 14
Nilou-Genome Lab 0 0 2 0 8 0 10
Myriad Women's Health, Inc. 1 8 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 0 7
OMIM 6 0 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 4
Mendelics 2 0 0 1 0 0 3
GeneReviews 3 0 0 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 1 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 0 0 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
Genomics England Pilot Project,Genomics England 2 1 0 0 0 0 3
Genetic Services Laboratory,University of Chicago 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Department of Medical Genetics, Faculty of Medicine,Ege University 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Neurology,Kindai University 1 0 0 0 0 0 1
Heon Lab,The Hospital for Sick Children 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1

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