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
99 11 207 77 48 1 415

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 69 4 168 57 43 0 333
Mental retardation, X-linked 98 38 5 32 2 4 1 81
History of neurodevelopmental disorder 2 0 17 12 10 0 41
not specified 0 0 13 11 2 0 26
Inborn genetic diseases 5 0 7 0 0 0 12
Intellectual disability 2 2 2 0 0 0 6
See cases 0 0 2 0 0 0 2
Continuous spike and waves during slow-wave sleep syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 1 159 49 47 0 295
Ambry Genetics 7 0 24 12 10 0 53
GeneDx 21 0 6 4 0 0 31
Genetic Services Laboratory, University of Chicago 2 0 12 8 2 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 9 2 2 4 0 0 17
Baylor Genetics 5 1 6 0 0 0 12
Athena Diagnostics Inc 0 0 1 3 6 0 10
OMIM 8 0 0 0 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 3 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 2 2 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mendelics 1 1 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
New York Genome Center 0 0 1 1 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 0 0 0 0 1
Clinical Genetics laboratory, 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
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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
Genetics Division,Universidade Federal de Sao Paulo 1 0 0 0 0 0 1

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