ClinVar Miner

Variants studied for Testosterone 17-beta-dehydrogenase deficiency

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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
21 21 22 1 7 66

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HSD17B3, SLC35D2-HSD17B3 18 18 22 1 7 60
HSD17B3 3 3 0 0 0 6

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 1 17 1 7 28
Clinical Biochemistry Laboratory, Health Services Laboratory 7 7 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 11
OMIM 10 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 5 5 0 0 0 10
Revvity Omics, Revvity 3 3 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 3
3billion, Medical Genetics 1 0 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 1 0 0 1

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