ClinVar Miner

Variants studied for branchio-oto-renal syndrome

Included ClinVar conditions (6):
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 not provided total
104 45 109 123 39 5 396

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EYA1 81 21 85 85 35 1 287
TFAP2A 8 10 6 8 1 0 32
LOC121740638, TFAP2A 9 12 3 5 0 0 27
SIX5 0 0 7 9 3 1 19
DM1, LOC107075317, SIX5 1 0 2 6 0 1 9
LOC107075317, SIX5 2 0 4 4 0 2 9
SIX1 1 0 0 5 0 0 6
DM1, LOC107075317, LOC129929037, SIX5 0 0 1 1 0 0 2
CLRN1 0 0 1 0 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581 1 0 0 0 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582 1 0 0 0 0 0 1
MIR9718, SIX1 0 1 0 0 0 0 1
TJP2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 10 62 75 31 0 249
Fulgent Genetics, Fulgent Genetics 4 3 29 52 1 0 89
OMIM 20 0 1 0 0 0 21
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 7 0 0 0 0 13
Genome-Nilou Lab 0 0 0 0 9 0 9
Revvity Omics, Revvity 0 1 7 0 0 0 8
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 3
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 1 2 0 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 2 1 0 0 0 3
Mendelics 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1

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