ClinVar Miner

Variants studied for Intellectual developmental disorder, autosomal recessive 68

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 total
8 11 10 0 1 30

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TRMT1 8 10 10 1 29
LOC130063689, TRMT1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 0 1 6 0 7
OMIM 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 2
Revvity Omics, Revvity 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 2
Pediatric Genetics Clinic, Sheba Medical Center 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 1
New York Genome Center 0 0 1 0 1
Genome-Nilou Lab 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 1
Clinical Genetics, University Hospital Uppsala 0 1 0 0 1

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