ClinVar Miner

Variants studied for 46,XX disorder of sex development

Included ClinVar conditions (32):
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 not provided total
202 89 561 191 162 8 1151

Gene and significance breakdown #

Total genes and gene combinations: 37
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 31 9 52 103 24 1 207
POR 8 3 110 14 18 0 139
NR3C1 8 0 100 22 7 0 136
CYP19A1, MIR4713HG, PIRC66 9 2 72 10 25 0 115
CYP21A2, LOC106780800 30 14 29 5 32 1 107
CYP11B1, LOC106799833 17 23 43 8 8 6 97
CYP11B1 8 6 53 10 18 0 93
FSHR 6 8 42 4 4 0 62
HSD3B2 11 1 30 9 10 0 52
BMP15 8 2 5 4 10 0 25
LARS2 11 5 4 1 0 0 21
CYP21A2 16 1 1 0 2 0 19
HARS2 4 7 1 0 0 0 11
CLPP 4 3 0 0 0 0 7
CYP19A1 1 0 5 0 1 0 7
TWNK 5 1 1 0 0 0 7
WNT4 4 0 2 0 0 0 6
CYP21A2, LOC106780800, TNXB 3 0 0 0 1 0 4
MCM9 3 0 1 0 0 0 4
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 2 0 1 0 3
MRPS22 2 0 1 0 0 0 3
POR, TMEM120A 0 0 3 0 0 0 3
RSPO1 3 0 0 0 0 0 3
CYP11B1, LOC110673972 0 2 0 0 0 0 2
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1 0 2
ERAL1 1 0 1 0 0 0 2
MLX, PSMC3IP 2 0 0 0 0 0 2
PSMC3IP 1 0 1 0 0 0 2
SOHLH1 2 0 0 0 0 0 2
CLDN14, SGO2 1 0 0 0 0 0 1
CYP19A1, LOC110386947 0 0 1 0 0 0 1
ESR2 1 0 0 0 0 0 1
HSD3B2, LOC109029530 0 0 1 0 0 0 1
NRXN1 0 0 0 1 0 0 1
NUP107 1 0 0 0 0 0 1
PRORP 0 1 0 0 0 0 1
SRY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 452 62 101 0 617
Invitae 29 6 25 105 23 0 188
OMIM 132 0 0 0 0 0 132
Division of Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 63
Counsyl 14 28 20 0 0 0 62
Natera, Inc. 1 1 25 13 12 0 52
GeneReviews 12 0 0 0 5 0 17
Baylor Genetics 7 0 7 0 0 0 14
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
Mendelics 2 0 6 0 5 0 13
Fulgent Genetics,Fulgent Genetics 7 2 3 0 0 0 12
Myriad Women's Health, Inc. 8 3 0 0 0 0 11
Pecori Giraldi Lab,University of Milan 0 0 0 2 6 0 8
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
LifeCell International Pvt. Ltd 4 1 1 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 2 0 0 0 5
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 4
Lab of Endocrine and Metabolic Research,Istituto Auxologico Italiano 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
Reproductive Development, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 3 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Department of Reproductive Endocrinology,Zhejiang Provincial People's Hospital 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 1
David Buchner Laboratory,Case Western Reserve University 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Dept. of Evolution and Genomic Sciences,University of Manchester 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Internal Medicine,University of Pretoria 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1
Pars Genome Lab 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.