ClinVar Miner

Variants in gene BBS2

Minimum submission review status: Collection method:
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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
40 39 76 25 13 1 160

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 17 6 44 16 10 0 84
Bardet-Biedl syndrome 2 20 32 25 3 1 0 76
not provided 4 3 9 2 4 1 21
not specified 0 0 2 8 8 0 16
Bardet-Biedl syndrome 1 0 0 0 3 7 0 7
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 4 1 0 0 0 0 5
Bardet-biedl syndrome 2/6, digenic 4 0 0 0 0 0 4
Retinitis pigmentosa 74 4 0 0 0 0 0 4
Bardet-biedl syndrome 1/2, digenic 3 0 0 0 0 0 3
Retinitis pigmentosa 3 0 0 0 0 0 3
Bardet-biedl syndrome 2/4, digenic 2 0 0 0 0 0 2
BBS2-Related Disorders 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 9 29 24 3 0 0 65
Illumina Clinical Services Laboratory,Illumina 2 1 37 12 2 0 54
Invitae 12 1 7 4 7 0 31
OMIM 20 0 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 6 5 1 2 3 0 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 5 0 6 0 16
PreventionGenetics 0 0 0 8 4 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 4 0 6
Fulgent Genetics,Fulgent Genetics 4 1 0 0 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 1 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 0 1 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 1 0 1 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
GeneDx 1 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Department of Medical Genetics, Faculty of Medicine,Ege University 1 0 0 0 0 0 1
Center for Human Disease Modeling,Duke University Medical Center 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Medical Genetics, INSERM 1 0 0 0 0 0 1

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