ClinVar Miner

Variants in gene KDM6A

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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
112 60 529 359 144 13 1141

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kabuki syndrome 2 76 43 336 279 87 0 809
not provided 34 12 192 69 78 5 381
Inborn genetic diseases 4 1 50 17 1 0 73
KDM6A-related disorder 2 2 25 24 5 0 58
not specified 1 0 11 11 19 8 44
Malignant tumor of urinary bladder 9 0 0 0 0 0 9
Kabuki syndrome 1; Kabuki syndrome 2 1 0 3 2 1 0 7
Kabuki syndrome 1 2 1 2 0 0 0 5
Intellectual disability 0 0 1 3 0 0 4
Neurodevelopmental disorder 1 1 0 0 0 0 2
Prostate cancer 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Autism spectrum disorder 1 0 0 0 0 0 1
CHARGE syndrome 0 1 0 0 0 0 1
Kabuki Syndrome - KDM6A 0 1 0 0 0 0 1
Peripheral precocious puberty 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 12 272 276 87 0 680
GeneDx 21 7 159 50 75 0 312
Ambry Genetics 4 1 50 17 1 0 73
Fulgent Genetics, Fulgent Genetics 2 3 57 5 1 0 68
PreventionGenetics, part of Exact Sciences 2 2 25 25 10 0 64
CeGaT Center for Human Genetics Tuebingen 4 2 18 11 0 0 35
Breakthrough Genomics, Breakthrough Genomics 0 0 1 12 18 0 31
Genetic Services Laboratory, University of Chicago 3 4 2 3 10 0 22
Eurofins Ntd Llc (ga) 0 0 4 2 9 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 8 4 0 0 13
Autoinflammatory diseases unit, CHU de Montpellier 10 3 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 7 0 0 0 11
Laboratory of Urology, Hospital Clinic de Barcelona 9 0 0 0 0 0 9
ITMI 0 0 0 0 0 8 8
Baylor Genetics 0 0 7 0 0 0 7
Revvity Omics, Revvity 1 2 4 0 0 0 7
Bodamer Research Lab, Boston Children's Hospital 6 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 1 0 6
OMIM 5 0 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 1 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 0 5
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 5 5
3billion 2 3 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 2 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 2 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 2 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 1 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Science for Life laboratory, Karolinska Institutet 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 1 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
DeNA Laboratory, DeNA Laboratory 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1

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