ClinVar Miner

Variants in gene AP1G1

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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
11 8 78 27 1 121

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 2 0 22 21 0 45
not provided 2 2 30 2 1 37
Usmani-Riazuddin syndrome, autosomal dominant 4 3 11 0 0 18
AP1G1-related disorder 0 0 9 3 0 12
not specified 0 0 7 1 0 8
Usmani-Riazuddin syndrome, autosomal recessive 4 0 0 0 0 4
Neurodevelopmental disorder 0 1 0 0 0 1
See cases 0 1 0 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant; Usmani-Riazuddin syndrome, autosomal recessive 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 2 0 22 21 0 45
GeneDx 2 1 26 0 1 30
PreventionGenetics, part of Exact Sciences 0 0 9 3 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 1 0 8
OMIM 5 0 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 1 1 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 0 2
3billion 1 0 1 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1

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