ClinVar Miner

Variants studied for X-linked intellectual disability-hypotonia-movement disorder syndrome

Included ClinVar conditions (2):
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
17 8 1 0 0 25

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DDX3X 17 8 1 25

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 1 0 4
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 2
HudsonAlpha Institute for Biotechnology 2 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 2
Center for Human Genetics,University of Leuven 0 2 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1
Fulgent Genetics 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 1

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