ClinVar Miner

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

Included ClinVar conditions (4):
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
31 0 31 6 8 74

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
MECP2 31 31 6 8 74

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
RettBASE 12 24 1 0 37
Invitae 5 2 4 7 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 10 0 0 1 11
Fulgent Genetics 5 5 0 0 10
OMIM 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 1

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