ClinVar Miner

Variants studied for 46,XY partial gonadal dysgenesis

Included ClinVar conditions (13):
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 total
76 30 191 269 144 687

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR0B1 27 4 35 141 37 237
ZFPM2 4 1 48 53 34 134
MAP3K1 9 4 28 43 38 115
LOC126860469, ZFPM2 0 0 38 20 11 69
NR5A1 28 15 11 0 0 53
LOC129993918, MAP3K1 0 0 12 6 15 32
GATA4 3 3 13 3 3 24
LOC126807392, MAP3K1 0 0 6 3 6 15
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 1
DMRT1 0 1 0 0 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 1
OTX2 0 1 0 0 0 1
PROP1 1 0 0 0 0 1
SOS1 0 1 0 0 0 1
SOX9 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 29 6 155 256 136 582
OMIM 28 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 1 0 11 11 2 25
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 4 2 1 13
3billion 2 2 5 0 0 9
Baylor Genetics 0 2 6 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 6 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 3 0 0 4
Laan Lab, Human Genetics Research Group, University of Tartu 2 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 3
Mendelics 0 0 1 1 1 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine 1 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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