ClinVar Miner

Variants studied for Mental retardation, autosomal dominant 7

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
45 22 66 41 20 189

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
DYRK1A 43 22 66 41 20 187
B3GALT5, BRWD1, CLDN14, DSCAM, DSCR4, DSCR8, DYRK1A, ERG, ETS2, GET1, HLCS, HMGN1, IGSF5, KCNJ15, KCNJ6, LCA5L, LINC00114, PCP4, PIGP, PSMG1, RIPPLY3, SH3BGR, SIM2, TTC3, VPS26C 1 0 0 0 0 1
DSCR4, DSCR8, DYRK1A, ERG, ETS2, KCNJ15, KCNJ6, LINC00114 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 2 61 41 19 136
UCLA Clinical Genomics Center, UCLA 8 3 0 0 0 11
Genetic Services Laboratory,University of Chicago 4 3 0 0 0 7
Service de Génétique Moléculaire,Hôpital Robert Debré 3 4 0 0 0 7
Baylor Genetics 4 1 1 0 0 6
OMIM 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
GeneReviews 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Clinical Genomics Program,Stanford Medicine 1 0 0 0 0 1

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