ClinVar Miner

Variants in gene MED23

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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
12 16 133 51 9 7 210

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 1 0 87 29 3 0 120
not provided 3 9 33 21 6 3 72
Intellectual disability, autosomal recessive 18 9 7 15 2 0 4 33
not specified 0 0 14 6 2 0 22
MED23-related disorder 0 1 3 8 0 0 12
Intellectual disability 0 1 0 1 0 0 2
Fraser syndrome 3 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 1 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
Ambry Genetics 1 0 87 29 3 0 120
GeneDx 3 5 22 0 1 0 31
Genetic Services Laboratory, University of Chicago 0 0 13 6 1 0 20
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 11 5 0 16
CeGaT Center for Human Genetics Tuebingen 0 1 4 10 0 0 15
PreventionGenetics, part of Exact Sciences 0 1 3 8 0 0 12
OMIM 8 0 0 0 0 0 8
Baylor Genetics 1 1 6 0 0 0 8
Breakthrough Genomics, Breakthrough Genomics 0 0 4 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
3billion 0 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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