ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 18

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
9 6 11 0 1 4 29

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
MED23 9 6 11 0 4 28
ARG1, MED23 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 8 0 0 0 0 8
Baylor Genetics 1 1 6 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1

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