ClinVar Miner

Variants in gene AGO2

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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
5 9 83 24 15 130

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 5 52 19 15 90
Lessel-Kreienkamp syndrome 4 4 10 1 0 19
Inborn genetic diseases 1 0 14 0 0 15
AGO2-related disorder 0 0 5 1 2 8
not specified 0 0 3 3 0 6
Neurodevelopmental disorder 0 1 0 0 0 1
Premature ovarian failure 3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 2 2 42 0 5 51
CeGaT Center for Human Genetics Tuebingen 0 1 6 15 4 26
Ambry Genetics 1 0 14 0 0 15
Labcorp Genetics (formerly Invitae), Labcorp 0 0 3 4 7 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 9 10
PreventionGenetics, part of Exact Sciences 0 0 5 1 2 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 3 0 6
OMIM 4 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1

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