ClinVar Miner

Variants studied for X-linked intellectual disability, Cantagrel type

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 not provided total
44 12 40 5 0 3 101

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
NEXMIF 43 12 40 5 3 100
LOC130068445, LOC130068446, LOC130068447, LOC130068448, NEXMIF 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Baylor Genetics 5 1 9 0 0 15
Revvity Omics, Revvity 3 0 10 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 4 0 1 0 9
OMIM 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 1 0 4 1 0 6
New York Genome Center 0 0 5 1 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 4
Mendelics 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 1 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Invitae 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
3billion 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 1

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