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
71 22 432 397 38 1 941

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 67 22 423 397 38 1 928
PIGG, ZNF721 1 0 8 0 0 0 9
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 63 11 418 397 36 0 925
Baylor Genetics 4 1 20 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 0 0 0 9
OMIM 8 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
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
3billion 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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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