ClinVar Miner

Variants studied for Intellectual developmental disorder, autosomal recessive 67

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
2 3 6 0 2 12

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
EIF3F 1 3 4 2 9
EIF3F, LOC126861132 1 0 2 0 3

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 1 0 1 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 2
Genome-Nilou Lab 0 0 0 2 2
MGZ Medical Genetics Center 0 1 1 0 2
New York Genome Center 0 0 2 0 2
OMIM 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 2
3billion 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1

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