ClinVar Miner

Variants in gene NEXMIF

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
166 20 495 283 128 3 982

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 124 5 419 247 128 0 871
Inborn genetic diseases 11 0 69 50 15 0 145
X-linked intellectual disability, Cantagrel type 42 12 40 4 0 3 98
not specified 0 0 17 10 2 0 29
NEXMIF-related condition 1 1 7 15 1 0 25
Intellectual disability 3 2 2 0 0 0 7
See cases 0 0 2 0 0 0 2
Continuous spike and waves during slow sleep 1 0 0 0 0 0 1
History of neurodevelopmental disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 1 350 185 125 0 754
GeneDx 26 1 93 42 21 0 183
Ambry Genetics 11 0 70 50 15 0 146
CeGaT Center for Human Genetics Tuebingen 13 2 5 34 0 0 54
PreventionGenetics, part of Exact Sciences 1 1 7 15 1 0 25
Genetic Services Laboratory, University of Chicago 2 0 12 8 2 0 24
Baylor Genetics 5 1 9 0 0 0 15
Revvity Omics, Revvity 3 0 10 0 0 0 13
Athena Diagnostics Inc 0 0 1 3 6 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 4 0 1 0 0 9
OMIM 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 5 0 0 0 7
New York Genome Center 0 0 6 1 0 0 7
Eurofins Ntd Llc (ga) 3 0 3 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 4 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Diagnostic Laboratory, Strasbourg University Hospital 2 2 1 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 3 0 0 0 4
Mendelics 2 1 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1

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