ClinVar Miner

Variants in gene BBS4

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
109 119 341 346 50 1 863

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 95 29 185 305 39 1 646
Bardet-Biedl syndrome 4 24 89 135 22 17 0 272
BBS4-related disorder 5 16 91 60 0 0 172
not provided 4 5 39 13 15 0 72
Inborn genetic diseases 0 0 47 0 0 0 47
not specified 0 0 7 10 17 0 32
Retinal dystrophy 1 3 6 0 0 0 9
Bardet-Biedl syndrome 1 2 1 0 1 3 0 7
Retinitis pigmentosa 2 1 1 0 0 0 4

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 82 20 182 305 28 0 617
PreventionGenetics, part of Exact Sciences 5 16 91 68 11 0 191
Fulgent Genetics, Fulgent Genetics 9 27 89 17 1 0 143
Baylor Genetics 10 59 2 0 0 0 71
Illumina Laboratory Services, Illumina 0 0 40 4 10 0 54
Ambry Genetics 0 0 47 0 0 0 47
GeneDx 1 0 17 1 1 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 3 2 14 0 19
Eurofins Ntd Llc (ga) 0 0 10 0 8 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 5 2 2 0 17
GeneReviews 4 0 0 0 12 0 16
CeGaT Center for Human Genetics Tuebingen 2 3 4 4 1 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 6 0 12
Revvity Omics, Revvity 3 4 4 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 4 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genetic Services Laboratory, University of Chicago 0 0 2 2 2 0 6
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 2 4 0 0 0 0 6
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 6 0 0 0 0 0 6
New York Genome Center 0 1 5 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 2 0 3 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 0 0 0 0 5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 1 3 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 2 2 0 5
OMIM 4 0 0 0 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 4 0 0 0 0 0 4
Blueprint Genetics 0 2 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 0 1 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 0 3
Molecular Endocrinology Laboratory, Christian Medical College 0 0 3 0 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 1 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Natera, Inc. 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 0 1 0 0 0 1

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