Variants studied for Genitourinary and/or brain malformation 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)
		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
8	7	4	0	1	20

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PPP1R12A	8	6	4	1	19
LOC112163633, PPP1R12A	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	3	0	0	0	3
Johns Hopkins Genomics, Johns Hopkins University	1	2	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	2
Baylor Genetics	0	1	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	1	0	0	0	1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	1
Neonatology Lab, Anhui Women and Child Health Care Hospital	1	0	0	0	1

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