ClinVar Miner

Variants studied for Genitourinary and/or brain malformation syndrome

Coded as:
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
9 11 6 0 1 27

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 9 10 6 1 26
LOC112163633, PPP1R12A 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 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
MVZ Medizinische Genetik Mainz 0 1 0 0 1
Neonatology Lab, Anhui Women and Child Health Care Hospital 1 0 0 0 1

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