ClinVar Miner

Variants studied for X-linked intellectual disability-psychosis-macroorchidism syndrome

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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
32 3 29 3 0 63

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MECP2 31 3 24 3 57
LOC130068854, MECP2 1 0 5 0 6

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
RettBASE 12 0 24 1 37
Mendelics 9 0 0 0 9
OMIM 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 2
Eurofins-Biomnis 2 0 0 0 2
Baylor Genetics 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 1
3billion 1 0 0 0 1
Suma Genomics 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
Centre for Population Genomics, CPG 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 1

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