ClinVar Miner

Variants in gene PCLO

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Minimum submission review status: Collection method:
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Gene type:

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
70 9 1924 1257 119 33 3312

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 66 6 1563 1197 116 0 2914
Inborn genetic diseases 0 0 640 56 1 0 697
PCLO-related disorder 0 1 16 58 16 0 91
Pontocerebellar hypoplasia type 3 4 2 60 5 7 1 78
not specified 0 0 37 25 9 0 71
Cervical cancer 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Squamous cell lung carcinoma 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 6 1496 1166 114 0 2848
Ambry Genetics 0 0 640 56 1 0 697
PreventionGenetics, part of Exact Sciences 0 1 16 58 16 0 91
CeGaT Center for Human Genetics Tuebingen 0 0 22 65 2 0 89
GeneDx 0 0 77 0 9 0 86
Breakthrough Genomics, Breakthrough Genomics 0 0 15 17 50 0 82
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 35 20 0 0 56
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 32 32
Baylor Genetics 0 0 19 0 0 0 19
Eurofins Ntd Llc (ga) 0 0 11 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 6 4 0 0 11
Genome-Nilou Lab 0 0 0 0 7 0 7
Revvity Omics, Revvity 0 0 7 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 4 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 2 2 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 1 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 4
Daryl Scott Lab, Baylor College of Medicine 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
New York Genome Center 0 0 3 0 0 0 3
OMIM 3 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 1 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
3billion 0 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics, University of Luebeck 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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