ClinVar Miner

Variants in gene POT1

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Minimum submission review status: Collection method:
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
193 102 1461 982 79 37 2604

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tumor predisposition syndrome 3 148 54 1030 665 28 6 1904
Hereditary cancer-predisposing syndrome 73 40 875 509 7 0 1492
not provided 9 24 218 67 55 0 364
not specified 0 0 62 85 21 0 156
POT1-related disorder 1 0 13 12 3 0 29
Tumor predisposition syndrome 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cerebroretinal microangiopathy with calcifications and cysts 3 0 2 18 4 3 0 27
Long telomere syndrome 23 2 0 0 0 0 25
Acute myeloid leukemia 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 4 4
Dyskeratosis congenita 0 2 2 0 0 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 3 3
Cerebroretinal microangiopathy with calcifications and cysts 3 1 1 0 0 0 0 2
Familial melanoma 0 0 1 1 0 0 2
Hereditary cancer 0 0 2 0 0 0 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
See cases 0 1 0 0 1 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Breast carcinoma 0 0 0 1 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Glioma susceptibility 1; Melanoma, cutaneous malignant, susceptibility to, 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
High-grade astrocytoma with piloid features 0 1 0 0 0 0 1
Hoyeraal-Hreidarsson syndrome 0 0 1 0 0 0 1
Inherited aplastic anemia 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 1 0 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 9 0 0 0 1 0 0 1
Neoplasm 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Polycystic kidney disease 4 1 0 0 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Tumor predisposition syndrome 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 136 42 1021 665 28 0 1892
Ambry Genetics 71 35 864 507 5 0 1482
GeneDx 6 7 175 45 53 0 286
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 6 37 73 7 0 124
Quest Diagnostics Nichols Institute San Juan Capistrano 1 3 62 16 12 0 94
Genetic Services Laboratory, University of Chicago 1 5 29 5 6 0 46
Sema4, Sema4 1 4 17 20 2 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 29 29
PreventionGenetics, part of Exact Sciences 1 0 13 12 3 0 29
CeGaT Center for Human Genetics Tuebingen 0 5 6 13 3 0 27
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 23 2 0 0 0 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 16 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 10 5 4 0 20
Fulgent Genetics, Fulgent Genetics 0 2 17 0 0 0 19
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 3 14 0 0 0 19
OMIM 16 0 0 0 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 4 6 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 3 0 0 0 0 7
Bone Marrow Failure laboratory, Queen Mary University London 0 2 4 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 2 0 0 0 6
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 4 0 0 0 6
Revvity Omics, Revvity 1 0 5 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 2 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Mendelics 0 0 4 0 0 0 4
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
GeneReviews 0 0 0 0 0 3 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 2 0 2
Dasa 1 0 0 1 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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