ClinVar Miner

Variants in gene PCNT

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Minimum conflict level:
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
251 151 1586 2126 335 75 4077

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 198 60 663 1866 324 0 3004
PCNT-related disorder 8 29 675 510 19 0 1241
Microcephalic osteodysplastic primordial dwarfism type II 67 75 358 94 107 3 658
Inborn genetic diseases 6 0 482 59 0 0 547
not specified 0 0 172 164 100 0 413
Ovarian serous cystadenocarcinoma 0 0 0 0 0 17 17
Acute myeloid leukemia 0 0 0 0 0 9 9
Familial cancer of breast 0 0 0 0 0 9 9
Sarcoma 0 0 0 0 0 9 9
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Cervical cancer 0 0 0 0 0 8 8
Thymoma 0 0 0 0 0 8 8
Hepatocellular carcinoma 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 6 6
Uterine carcinosarcoma 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 5 5
See cases 0 2 2 1 0 0 5
Uveal melanoma 0 0 0 0 0 5 5
Intellectual disability 0 0 0 2 2 0 4
Lung cancer 0 0 0 0 0 4 4
Adrenocortical carcinoma, hereditary 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 3 3
Microcephaly 0 0 3 0 0 0 3
Renal cyst 0 0 2 1 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Megacolon 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 189 47 569 1715 180 0 2700
PreventionGenetics, part of Exact Sciences 8 29 675 510 19 0 1241
Ambry Genetics 6 0 482 59 0 0 547
GeneDx 8 8 68 162 239 0 485
Genetic Services Laboratory, University of Chicago 19 3 195 105 87 0 409
Illumina Laboratory Services, Illumina 0 0 249 31 93 0 373
Breakthrough Genomics, Breakthrough Genomics 0 1 24 38 128 0 191
CeGaT Center for Human Genetics Tuebingen 4 2 25 70 10 0 111
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 55 41 0 110
Eurofins Ntd Llc (ga) 2 1 53 13 29 0 98
Fulgent Genetics, Fulgent Genetics 6 36 43 9 1 0 95
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 72 72
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 20 33 0 53
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 36 1 0 37
Revvity Omics, Revvity 7 3 20 0 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 23 1 0 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 9 15 0 25
Genome-Nilou Lab 0 1 0 0 15 0 16
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 2 6 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 3 3 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 7 0 0 0 9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 6 0 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 3 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 3 4 0 0 0 7
3billion 3 0 0 3 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 3 1 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 6 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 1 0 0 4
Daryl Scott Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Dr. Orhan Ocalgiray Molecular Biology-Biotechnology and Genetics Research Centre (MOBGAM), Istanbul Technical University 2 0 0 0 1 0 3
Functional Genomics Laboratory, Institute of Genome Research 3 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 1 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 2 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Department of Molecular Genetics, Genome Genetics Laboratory 0 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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