Variants studied for 46,XY sex reversal 6

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)

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
9	5	80	75	62	219

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
MAP3K1	9	5	52	61	40	158
LOC129993918, MAP3K1	0	0	18	10	16	41
LOC126807392, MAP3K1	0	0	10	4	6	20

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	3	0	64	71	62	200
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	8	1	0	9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	6	6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	6	6
OMIM	6	0	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	1	1	4
Fulgent Genetics, Fulgent Genetics	0	0	1	2	0	3
Department of Urology, Children's Hospital, Zhejiang University School of Medicine	0	1	1	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Cell and Gene Engineering Laboratory, Zhejiang University	1	0	0	0	0	1
Center 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
Clinical Genetics Laboratory, Skane University Hospital Lund	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	1
Institute of Human Genetics, Heidelberg University	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	1	0	0	0	1
UCLA Clinical Genomics Center, UCLA	0	1	0	0	0	1

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