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
18 5 95 43 41 202

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 11 5 92 42 38 188
UPF3B 7 0 2 1 3 13
GJB1, MED12, NLGN3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 85 42 40 167
GeneReviews 11 0 0 0 0 11
OMIM 9 0 0 0 0 9
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
Mendelics 0 1 0 1 1 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 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
Baylor Genetics 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1

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