ClinVar Miner

Variants studied for 46,XY disorder of sex development of endocrine origin

Included ClinVar conditions (21):
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
928 246 2810 875 248 1 5 5072

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 234 20 972 327 44 0 0 1597
MSH2 148 37 669 190 39 0 1 1084
PMS2 120 31 586 159 40 0 0 936
MLH1 144 49 416 158 58 0 0 825
DHCR7 40 68 87 14 15 0 2 194
AR 87 8 14 2 7 0 0 117
SRD5A2 39 5 26 6 7 0 0 79
LHCGR, STON1-GTF2A1L 14 1 7 17 10 0 0 49
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
EPCAM 4 0 1 0 11 0 0 16
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
LHB 6 0 0 0 4 0 0 10
CYP17A1 5 1 1 0 0 0 2 9
EPCAM, MIR559, MSH2 5 0 3 0 0 0 0 8
EPM2AIP1, MLH1 7 0 0 0 0 0 0 7
EPCAM, MIR559 4 0 1 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
EPCAM, MSH2 2 0 1 0 0 0 0 3
LHCGR 3 0 0 0 0 0 0 3
AMH 0 0 0 0 2 0 0 2
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
AMHR2 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 725 146 2665 840 215 0 0 4591
OMIM 149 0 0 0 0 1 0 150
Illumina Clinical Services Laboratory,Illumina 8 4 78 34 19 0 0 143
Counsyl 14 81 47 0 0 0 0 142
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 63 0 11 0 0 0 0 74
Fulgent Genetics 14 3 8 0 0 0 0 25
Integrated Genetics/Laboratory Corporation of America 12 4 0 0 0 0 0 16
GeneReviews 13 0 0 0 3 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 8 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 0 0 1 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 7 0 0 9
Genetic Services Laboratory, University of Chicago 3 5 0 0 0 0 0 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 3 1 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 6 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 3 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Medical Molecular Genetics,National Research Centre 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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 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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