ClinVar Miner

Variants studied for Kabuki syndrome 2

Coded as:
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 total
88 49 394 345 94 955

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KDM6A 85 47 387 328 91 924
KDM6A, LOC130068183 0 0 7 15 2 23
KDM6A, LOC130068184 0 0 0 2 1 3
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRABD4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 1
DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 1 0 0 0 0 1
EXOSC9 1 0 0 0 0 1
KDM6A, LOC130068187 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 37 12 322 339 94 804
Fulgent Genetics, Fulgent Genetics 1 3 56 3 0 63
Autoinflammatory diseases unit, CHU de Montpellier 10 3 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 9 0 0 13
Revvity Omics, Revvity 1 2 5 0 0 8
3billion 2 5 0 0 0 7
Baylor Genetics 0 0 7 0 0 7
Bodamer Research Lab, Boston Children's Hospital 6 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 1 0 0 6
OMIM 6 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 2 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 5
Genetic Services Laboratory, University of Chicago 1 2 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 4
Shaikh Laboratory, University of Colorado 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 3
MVZ Martinsried, Medicover Genetics 0 1 2 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
DeNA Laboratory, DeNA Laboratory 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomics, Genetics and Epigenetics Laboratory, Medical College of Wisconsin 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 0 1 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 0 1 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1

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