ClinVar Miner

Variants studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (21):
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
145 46 371 343 173 2 1041

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NR0B1 35 5 67 153 37 0 289
ZFPM2 4 1 78 69 34 0 176
MAP3K1 9 5 52 61 40 0 158
LOC126860469, ZFPM2 0 0 50 26 11 0 87
DHH 11 2 41 15 9 0 75
NR5A1 33 23 16 1 0 0 72
SRY 31 6 15 1 1 0 53
LOC129993918, MAP3K1 0 0 18 10 16 0 41
DHX37 6 2 11 1 15 0 33
LOC126807392, MAP3K1 0 0 10 4 6 0 20
AKR1C2 3 1 3 0 1 0 8
CBX2 2 0 5 1 0 2 8
GATA4 1 0 0 0 3 0 4
​intergenic 2 0 0 0 0 0 2
AKR1C2, LOC101928051 1 0 0 1 0 0 2
AKR1C4 1 0 1 0 0 0 2
DMRT1 0 1 1 0 0 0 2
AR 1 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMRT1, DMRT2, DMRT3, DOCK8, FOXD4, KANK1, LINC-ADAIN, LOC110120591, LOC110120718, LOC121740737, LOC124210605, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC129390062, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, SMARCA2, ZNG1A 1 0 0 0 0 0 1
FANCA, SPIRE2 0 0 1 0 0 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 1 0 0 0 1
SOX9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 48 8 258 326 146 0 786
OMIM 66 0 0 0 0 0 66
Fulgent Genetics, Fulgent Genetics 1 1 27 10 2 0 41
Illumina Laboratory Services, Illumina 0 0 24 1 4 0 29
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 18 3 1 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 6 1 1 0 17
Genome-Nilou Lab 0 0 0 0 16 0 16
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 13 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 8 3 0 0 12
3billion 4 0 7 0 0 0 11
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 2 5 2 0 0 0 9
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 5 0 0 0 6
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 5 1 0 0 0 6
Mendelics 1 0 1 1 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 2 0 0 0 4
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 3 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 2 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 1 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 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 Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Prenatal Diagnosis Centre, Shenzhen Maternity and Child Healthcare Hospital 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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