ClinVar Miner

Variants studied for Mental retardation, syndromic, Claes-Jensen type, X-linked

Coded as:
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
20 11 4 0 0 2 36

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
KDM5C 20 11 4 2 36

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 9 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 3
Genetic Services Laboratory,University of Chicago 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Baylor Genetics 0 1 0 0 1
Mendelics 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 1
Breda Genetics srl 0 1 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1

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