ClinVar Miner

Variants studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Included ClinVar conditions (1):
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 total
89 18 52 99 29 270

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
SRD5A2 89 18 51 99 29 269
SRD5A2, XDH 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 58 6 14 97 16 191
Illumina Laboratory Services, Illumina 0 0 28 2 14 44
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 23 0 6 0 0 29
OMIM 13 0 0 0 0 13
Clinical Biochemistry Laboratory, Health Services Laboratory 13 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 5
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 4 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 3 1 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 2
Department of Medical Genetics, Hue University of Medicine and Pharmacy 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1

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