ClinVar Miner

Variants studied for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Coded as:
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Gene type:
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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
93 24 56 108 29 288

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 93 24 55 108 29 287
SRD5A2, XDH 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 63 6 15 106 16 206
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
Fulgent Genetics, Fulgent Genetics 11 6 0 0 0 17
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 1 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Baylor Genetics 2 0 0 0 0 2
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 2 0 0 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
Revvity Omics, Revvity 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 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
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 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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