ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 53

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 not provided total
69 16 424 354 38 1 885

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIGG 66 16 416 354 38 1 874
PIGG, ZNF721 0 0 7 0 0 0 7
ATP5ME, CPLX1, DGKQ, FGFRL1, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175 1 0 0 0 0 0 1
ATP5ME, CPLX1, DGKQ, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175, ZNF721 1 0 0 0 0 0 1
PDE6B, PIGG, ZNF721 1 0 0 0 0 0 1
PIGG, ZNF141, ZNF718, ZNF721, ZNF732 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 10 411 354 36 0 870
Baylor Genetics 4 1 20 0 0 0 25
OMIM 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 4 0 0 0 8
Genome-Nilou Lab 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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