Variants studied for Brunner syndrome

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
8	8	64	58	13	151

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MAOA	7	8	64	58	13	150
MAOA, MAOB, NDP	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	3	1	59	58	13	134
OMIM	4	0	0	0	0	4
Genome-Nilou Lab	0	0	0	0	3	3
Baylor Genetics	1	0	1	0	0	2
New York Genome Center	0	1	1	0	0	2
Sydney Children's Hospital, SCHN	2	0	0	0	0	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Solve-RD Consortium	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1

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