ClinVar Miner

Variants studied for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
64 183 240 34 15 1 475

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS10 64 182 239 34 15 1 473
BBS10, OSBPL8 0 1 0 0 0 0 1
NADK2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 26 47 90 18 7 0 188
Fulgent Genetics, Fulgent Genetics 16 45 87 20 0 0 168
Baylor Genetics 36 59 2 0 0 0 97
Counsyl 7 62 14 0 0 0 83
Illumina Laboratory Services, Illumina 3 0 54 2 12 0 71
Revvity Omics, Revvity 6 6 3 0 0 0 15
3billion 3 6 0 0 0 0 9
Myriad Genetics, Inc. 5 1 3 0 0 0 9
OMIM 6 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 0 5
MVZ Medizinische Genetik Mainz 2 0 2 0 0 0 4
Department Of Medical Genetics, Faculty Of Medicine, Ege University 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Genome-Nilou Lab 0 1 1 1 0 0 3
Mendelics 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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