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:
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 not provided total
98 33 61 112 28 1 303

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SRD5A2 98 33 55 112 28 1 297
CHD7 0 0 3 0 0 0 3
SOX9 0 0 1 0 0 0 1
SRD5A2, XDH 0 0 1 0 0 0 1
ZFPM2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 7 17 110 16 0 215
Illumina Laboratory Services, Illumina 0 0 21 2 12 0 35
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 23 0 6 0 0 0 29
Fulgent Genetics, Fulgent Genetics 11 6 0 0 0 0 17
Clinical Biochemistry Laboratory, Health Services Laboratory 13 0 0 0 0 0 13
OMIM 13 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 0 0 6 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
3billion 3 1 1 0 0 0 5
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 4 1 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 0 5
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Department of Medical Genetics, Hue University of Medicine and Pharmacy 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Center of Excellence of Human Genetics, National Research Center 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Sektion Paediatrische Endokrinologie und Diabetologie, Universität zu Lübeck 1 0 0 0 0 0 1

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