ClinVar Miner

Variants studied for 46,XY sex reversal 3

Included ClinVar conditions (3):
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 total
34 23 16 1 13 86

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR5A1 33 23 16 1 0 72
ZFPM2 0 0 0 0 10 10
GATA4 1 0 0 0 3 4

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 13 15
OMIM 14 0 0 0 0 14
3billion 3 0 6 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 8
Department of Urology, Children's Hospital, Zhejiang University School of Medicine 2 4 0 0 0 6
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 1 1 1 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 2
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
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
New York Genome Center 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1

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