ClinVar Miner

Variants studied for xanthinuria

Included ClinVar conditions (3):
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 total
36 29 425 299 99 814

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XDH 24 17 311 208 65 562
MOCOS 12 11 113 91 34 250
SRD5A2 0 1 0 0 0 1
SRD5A2, XDH 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 29 14 309 257 89 698
Illumina Laboratory Services, Illumina 0 0 134 27 20 181
Fulgent Genetics, Fulgent Genetics 6 5 82 48 3 144
Genome-Nilou Lab 0 0 0 0 37 37
Revvity Omics, Revvity 1 2 6 0 0 9
OMIM 7 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Mendelics 0 0 0 0 2 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 2
3billion 1 0 1 0 0 2
Department of Urology, Hunan Children's Hospital 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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