ClinVar Miner

Variants studied for intellectual disability, autosomal recessive 57

Included ClinVar conditions (1):
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
8 11 22 1 0 38

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
MBOAT7 8 11 22 0 37
MBOAT7, TSEN34 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 0 0 12 0 12
OMIM 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 3
3billion, Medical Genetics 2 1 0 0 3
Revvity Omics, Revvity 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 2
New York Genome Center 0 0 2 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 1 0 0 1

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