ClinVar Miner

Variants studied for MED12-related intellectual disability syndrome

Included ClinVar conditions (5):
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
20 8 158 101 41 326

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 benign total
MED12 13 7 152 100 38 308
UPF3B 7 1 5 1 3 17
GJB1, MED12, NLGN3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 136 98 40 275
GeneReviews 11 0 0 0 0 11
OMIM 10 0 0 0 0 10
Baylor Genetics 2 0 4 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 2 0 4
Mendelics 0 1 0 1 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1

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