ClinVar Miner

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

Included ClinVar conditions (14):
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
197 40 67 10 24 1 2 332

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
AR 87 8 14 2 7 0 0 117
SRD5A2 39 5 26 6 7 0 0 79
STAR 15 20 6 0 0 0 0 38
CYP11A1 9 1 13 1 0 0 0 24
AR, LOC109504725 10 0 1 1 10 0 0 22
POR 7 3 4 0 0 0 0 13
HSD17B3 11 1 0 0 0 0 0 12
HSD3B2 10 1 0 0 0 0 0 11
CYP17A1 5 1 1 0 0 0 2 9
AKR1C2 4 0 0 0 0 0 0 4
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
OMIM 109 0 0 0 0 1 0 110
Invitae 44 8 14 3 16 0 0 85
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 60 0 11 0 0 0 0 71
Illumina Clinical Services Laboratory,Illumina 4 1 30 7 4 0 0 46
Counsyl 4 20 6 0 0 0 0 30
Genetic Services Laboratory, University of Chicago 3 4 0 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 3 1 0 0 0 0 7
Fulgent Genetics 4 0 1 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 0 5
GeneReviews 1 0 0 0 3 0 0 4
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 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

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