ClinVar Miner

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

Included ClinVar conditions (6):
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
44 8 38 16 2 101

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 benign total
MECP2 43 8 33 15 1 93
LOC130068854, MECP2 1 0 5 1 1 8

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
RettBASE 12 0 24 1 0 37
Fulgent Genetics, Fulgent Genetics 8 1 5 11 1 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 1 13
Mendelics 9 0 0 0 0 9
OMIM 6 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 3
Baylor Genetics 2 0 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 1 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Centre for Population Genomics, CPG 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 1

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