ClinVar Miner

Variants studied for Bardet-Biedl syndrome 1

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
27 39 18 20 47 133

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 total
BBS1, ZDHHC24 15 19 13 1 4 48
BBS1 5 18 4 4 2 32
BBS12 0 0 1 2 13 14
BBS9 1 0 0 5 9 11
BBS2 0 0 0 3 7 7
BBS10 3 2 0 1 1 6
BBS7 0 0 0 1 5 5
BBS4 0 0 0 1 3 4
WDPCP 0 0 0 2 3 3
LZTFL1 2 0 0 0 0 2
BBIP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 5 35 12 2 0 54
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 1 9 27 39
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 0 3 24 30
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 2 16 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 13 17
OMIM 6 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 5
Baylor Genetics 2 1 1 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 4
Mendelics 2 0 0 1 0 3
GeneReviews 3 0 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 0 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 2
Department of Medical Genetics, Faculty of Medicine,Ege University 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1

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