ClinVar Miner

Variants in gene PPP1R12A

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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 not provided total
12 17 113 54 29 1 213

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 5 54 47 29 0 134
Inborn genetic diseases 1 0 57 1 0 0 59
Genitourinary and/or brain malformation syndrome 9 10 7 0 1 0 27
PPP1R12A-related disorder 2 2 3 7 0 0 14
not specified 0 0 2 0 0 0 2
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 39 42 28 0 112
Ambry Genetics 1 0 57 1 0 0 59
GeneDx 1 3 10 0 0 0 14
PreventionGenetics, part of Exact Sciences 2 2 3 7 0 0 14
CeGaT Center for Human Genetics Tuebingen 0 1 4 5 3 0 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 5 0 5
OMIM 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Neonatology Lab, Anhui Women and Child Health Care Hospital 1 0 0 0 0 0 1

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