ClinVar Miner

Variants studied for 46 XY differences of sex development

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
650 293 2197 2635 712 8 6189

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 53 49 696 1303 271 4 2229
WT1 62 19 387 343 46 1 836
AR 208 88 119 259 110 1 756
LOC107982234, WT1 19 3 440 226 14 1 680
SRD5A2 98 33 55 112 28 1 297
NR0B1 35 5 67 153 37 0 289
NR5A1 71 32 63 29 20 0 209
ZFPM2 4 1 79 69 34 0 177
MAP3K1 9 5 52 61 40 0 158
CYP11A1 17 18 80 8 4 0 120
LOC126860469, ZFPM2 0 0 50 26 11 0 87
HSD17B3, SLC35D2-HSD17B3 26 22 26 1 7 0 75
AR, LOC109504725 20 1 6 13 19 0 57
LOC129993918, MAP3K1 0 0 18 10 16 0 41
ELP4, PAX6 2 0 0 2 34 0 38
GATA4 3 3 15 4 4 0 28
LOC126807392, MAP3K1 0 0 10 4 6 0 20
PAX6 1 1 2 5 6 0 15
ATRX, LOC130068458 0 0 4 5 1 0 9
HHAT 2 1 3 1 0 0 7
DHH 5 0 0 0 0 0 5
DSE, TSPYL1 1 1 3 1 0 0 5
CHD7 0 0 4 0 0 0 4
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 2 0 0 0 3
DSE, LOC129997035, TSPYL1 1 1 1 0 0 0 3
CYP11A1, LOC108964933 0 0 2 0 0 0 2
LOC106707172, LOC107982234, LOC130005479, WT1 2 0 0 0 0 0 2
SOX8 0 0 2 0 0 0 2
SOX9 1 0 1 0 0 0 2
SRY 0 1 0 0 1 0 2
​intergenic 0 1 0 0 0 0 1
ADAMTS16 0 1 0 0 0 0 1
ALPL 0 1 0 0 0 0 1
AMHR2 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATRX, MAGT1 0 0 1 0 0 0 1
CDC45 0 0 1 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMRT1 0 1 0 0 0 0 1
FGFR3 0 1 0 0 0 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1
GLI2 0 0 0 0 1 0 1
INSR 0 1 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 0 1
LOC106014249, PAX6 0 0 0 0 1 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 1
LOC108178989, SRY 0 0 0 0 1 0 1
MAMLD1 1 0 0 0 0 0 1
NR2F2 0 1 0 0 0 0 1
OTX2 0 1 0 0 0 0 1
PKD1 0 0 1 0 0 0 1
POR 0 0 1 0 0 0 1
PROP1 1 0 0 0 0 0 1
SOS1 0 1 0 0 0 0 1
SRCAP 0 0 1 0 0 0 1
SRD5A2, XDH 0 0 1 0 0 0 1
ZNRF3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 388 67 1644 2536 609 0 5244
Fulgent Genetics, Fulgent Genetics 37 35 219 39 4 0 334
Natera, Inc. 3 11 189 57 13 0 273
Illumina Laboratory Services, Illumina 4 2 97 22 97 0 222
OMIM 144 0 0 0 0 0 144
Baylor Genetics 9 4 98 0 0 0 111
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 60 0 11 0 0 0 71
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 33 8 14 3 1 0 59
3billion 13 10 17 4 0 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 24 5 2 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 16 0 0 0 0 35
Clinical Biochemistry Laboratory, Health Services Laboratory 21 11 0 1 0 0 33
Genome-Nilou Lab 0 0 4 0 25 0 29
Mendelics 4 4 10 4 5 0 27
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 7 8 11 0 0 0 26
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 5 10 1 0 0 21
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 12 5 1 0 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 10 2 6 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 4 4 3 2 0 17
Neuberg Centre For Genomic Medicine, NCGM 2 4 10 0 0 0 16
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 13 0 15
Revvity Omics, Revvity 6 5 2 0 0 0 13
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 9 3 1 0 0 0 13
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 7 2 2 0 0 12
Center of Excellence of Human Genetics, National Research Center 0 5 5 1 0 0 11
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 10 0 0 0 0 11
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 3 7 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 6 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 4 0 0 0 0 10
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 6 1 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 5 0 0 0 9
Genetics Department, Polish Mother's Memorial Hospital Research Institute 6 2 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 8
New York Genome Center 1 0 7 0 0 0 8
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 0 3 0 0 0 7
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 7
Variantyx, Inc. 2 5 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 6 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 1 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 4 0 0 0 0 6
Human Developmental Genetics, Institut Pasteur 5 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 2 1 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 1 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 4 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Department of Medical Genetics, Hue University of Medicine and Pharmacy 4 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 0 0 0 0 4 0 4
Laan Lab, Human Genetics Research Group, University of Tartu 2 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 0 3 1 0 0 0 4
MVZ Medizinische Genetik Mainz 2 0 2 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 0 4 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital 0 1 2 0 0 0 3
GeneReviews 0 0 0 0 2 1 3
Human Genetics Disease in Children – Taif University, Taif University 1 0 0 0 2 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering, Central South University 3 0 0 0 0 0 3
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 3 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 2 0 0 0 0 2
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
Center for Translational Medicine, First Affiliated Hospital of Xi'an Jiaotong University 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Cytogenetics & Genomics Research Unit, University of Calcutta 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 1 0 0 0 0 0 1
Family Health Institute, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Sektion Paediatrische Endokrinologie und Diabetologie, Universität zu Lübeck 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Zero Childhood Cancer Program, Children's Cancer Institute 0 1 0 0 0 0 1

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