ClinVar Miner

Variants studied for 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
41 8 42 4 16 106

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
SRD5A2 41 8 42 4 16 106

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 28 2 14 44
Invitae 19 3 8 2 2 34
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 6 0 0 29
OMIM 13 0 0 0 0 13
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
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 2
Department of Medical Genetics,Hue University of Medicine and Pharmacy 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 0 1 0 0 0 1

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