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
28 26 37 1 0 87

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 total
KMT2E 26 26 37 1 85
ATXN7L1, KMT2E, PUS7, RINT1, SRPK2 1 0 0 0 1
KMT2E, SRPK2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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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
OMIM 8 0 0 0 8
Baylor Genetics 0 2 6 0 8
New York Genome Center 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 1 4
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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
3billion 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 1

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