ClinVar Miner

Variants in gene XDH

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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
23 11 355 255 149 715

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Xanthinuria type II 19 7 198 177 56 457
Hereditary xanthinuria type 1 9 6 169 48 42 254
not provided 1 0 11 48 99 158
Inborn genetic diseases 0 0 53 4 0 57
XDH-related condition 0 0 3 23 7 33
not specified 0 0 3 1 9 12
Xanthinuria 0 0 4 1 0 5
Protein-losing enteropathy; Short stature; Fetal growth restriction; Hydronephrosis; Cataract; Eczema; Immunodeficiency; Neutropenia; Urachal cyst; Thrombocytopenia 0 0 2 0 0 2
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 7 198 183 55 462
Illumina Laboratory Services, Illumina 0 0 134 27 20 181
GeneDx 1 0 6 30 99 136
Fulgent Genetics, Fulgent Genetics 5 2 56 26 1 90
Ambry Genetics 0 0 53 4 0 57
PreventionGenetics, part of Exact Sciences 0 0 3 23 13 39
Genome-Nilou Lab 0 0 0 0 37 37
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 5 3 9
CeGaT Center for Human Genetics Tuebingen 0 0 0 9 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 2 7
Revvity Omics, Revvity 1 2 3 0 0 6
OMIM 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Mendelics 0 0 0 0 2 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 2
3billion 1 0 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Department of Urology, Hunan Children's Hospital 0 0 1 0 0 1

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