ClinVar Miner

Variants studied for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (13):
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 risk factor not provided total
219 48 336 24 73 1 4 678

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
AR 102 12 35 0 9 0 1 156
POR 8 3 109 11 17 0 0 135
SRD5A2 41 7 42 3 16 0 0 104
STAR 15 20 54 1 3 0 0 90
HSD3B2 10 1 26 0 6 0 0 43
CYP11A1 10 2 21 6 3 0 0 40
HSD17B3 11 1 17 1 7 0 0 37
CYP17A1 5 2 19 0 2 0 3 30
AR, LOC109504725 13 0 1 1 8 0 0 23
AKR1C2 4 0 0 0 1 0 0 5
CYP17A1, LOC110408762 0 0 3 0 1 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 4
POR, TMEM120A 0 0 3 0 0 0 0 3
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
HSD3B2, LOC109029530 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 275 13 45 0 0 338
Invitae 68 12 34 11 22 0 0 147
OMIM 109 0 0 0 0 1 0 110
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 60 0 11 0 0 0 0 71
Counsyl 4 20 6 0 0 0 0 30
Genetic Services Laboratory,University of Chicago 4 3 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 5 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 3 1 0 0 0 0 7
Mendelics 0 0 3 0 3 0 0 6
Fulgent Genetics,Fulgent Genetics 4 0 1 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 3 0 0 0 0 0 4
GeneReviews 1 0 0 0 3 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 0 2
Department of Medical Genetics,Hue University of Medicine and Pharmacy 2 0 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1
Institute of Molecular Biology and Genetics,National Academy of Sciences of Ukraine 1 0 0 0 0 0 0 1

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