ClinVar Miner

Variants in gene METTL5

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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
6 7 25 0 2 36

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance benign total
Intellectual developmental disorder, autosomal recessive 72 5 5 5 0 14
Inborn genetic diseases 0 0 13 0 13
not provided 2 3 6 0 9
not specified 0 0 2 1 3
Intellectual disability, severe 2 0 0 0 2
METTL5-related disorder 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign total
Ambry Genetics 0 0 13 0 13
GeneDx 0 1 4 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 0 4
OMIM 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 1 3
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 0 2
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Mendelics 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Breda Genetics srl 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
Medical Genetics Laboratory, Gulhane Training and Research Hospital 0 0 1 0 1
Suma Genomics 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 1

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