Variants studied for 46,XY sex reversal 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
27	14	9	0	13	62

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	26	14	9	0	48
ZFPM2	0	0	0	10	10
GATA4	1	0	0	3	4

Submitter and significance breakdown #

Total submitters: 21

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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, Medical Genetics	2	1	5	0	8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	4	1	1	0	6
Genetic Services Laboratory, University of Chicago	1	2	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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	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 Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	1	0	0	1
New York Genome Center	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	1

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