ClinVar Miner

Variants studied for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
26 22 26 1 7 75

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HSD17B3, SLC35D2-HSD17B3 26 22 26 1 7 75

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 1 16 1 7 27
Clinical Biochemistry Laboratory, Health Services Laboratory 7 7 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 5 0 0 0 13
Fulgent Genetics, Fulgent Genetics 5 5 0 0 0 10
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 5 4 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 6
3billion 2 0 2 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 2 0 0 4
Center of Excellence of Human Genetics, National Research Center 0 0 2 0 0 2
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1

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