ClinVar Miner

Variants studied for O'Donnell-Luria-Rodan syndrome

Included ClinVar conditions (1):
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 total
36 32 51 1 0 113

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2E 33 32 51 1 110
ATXN7L1, KMT2E, PUS7, RINT1, SRPK2 1 0 0 0 1
KMT2E, SRPK2 1 0 0 0 1
LHFPL3 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Institute of Human Genetics, Cologne University 8 9 0 0 17
Revvity Omics, Revvity 0 0 12 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 1 10 0 11
Baylor Genetics 0 2 7 0 9
OMIM 8 0 0 0 8
Translational Cytogenomics Research Unit, Bambino Gesu Children Hospital 7 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 1 6
New York Genome Center 0 0 6 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 1 0 4
MGZ Medical Genetics Center 1 1 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 2
Mendelics 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
3billion, Medical Genetics 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 1
Department of Rehabilitation, Children's Hospital of Nanjing Medical University 0 1 0 0 1

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