ClinVar Miner

Variants studied for 46,XY sex reversal 3

Included ClinVar conditions (2):
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
26 15 8 0 13 61

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
NR5A1 25 15 8 0 47
ZFPM2 0 0 0 10 10
GATA4 1 0 0 3 4

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 14 0 0 0 14
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 13 14
3billion 2 1 5 0 8
Genetic Services Laboratory, University of Chicago 1 2 0 0 3
Invitae 1 1 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 2 0 0 3
UCLA Clinical Genomics Center, UCLA 2 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1

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