ClinVar Miner

Variants in gene AGTPBP1

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Minimum submission review status: Collection method:
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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
16 9 91 10 4 1 129

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 0 0 71 4 0 0 75
Neurodegeneration, childhood-onset, with cerebellar atrophy 11 5 12 0 0 0 28
not provided 4 1 7 2 0 1 15
AGTPBP1-related disorder 2 0 0 6 4 0 12
Global developmental delay; Aplasia/Hypoplasia of the cerebellum 1 1 0 0 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 1 0 0 0 2
not specified 0 0 2 0 0 0 2
Global developmental delay; Motor polyneuropathy; Aplasia/Hypoplasia of the cerebellum 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 71 4 0 0 75
GeneDx 3 1 6 0 0 0 10
PreventionGenetics, part of Exact Sciences 0 0 0 6 4 0 10
OMIM 8 0 0 0 0 0 8
Revvity Omics, Revvity 0 2 2 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Baylor Genetics 0 1 2 0 0 0 3
Hadassah Hebrew University Medical Center 1 2 0 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 1 0 0 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Bionano Laboratories 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1

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