ClinVar Miner

Variants in gene POT1

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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
141 75 1129 735 76 7 2021

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tumor predisposition syndrome 3 118 39 870 538 27 5 1579
Hereditary cancer-predisposing syndrome 40 31 582 346 7 0 998
not provided 5 17 139 52 49 0 256
not specified 0 0 46 55 19 0 111
POT1-related condition 1 0 7 11 3 0 22
Long telomere syndrome 5 0 0 0 0 0 5
Dyskeratosis congenita 0 2 2 0 0 0 4
See cases 0 1 0 0 1 0 2
Tumor predisposition syndrome 3; Glioma susceptibility 9 0 0 2 0 0 0 2
Breast carcinoma 0 0 0 1 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 3 1 0 0 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Glioma susceptibility 1; Melanoma, cutaneous malignant, susceptibility to, 1 0 0 0 0 0 1 1
Glioma susceptibility 9 0 0 1 0 0 0 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
Melanoma, cutaneous malignant, susceptibility to, 1 0 0 0 0 0 1 1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 106 34 869 539 27 0 1575
Ambry Genetics 38 26 574 343 5 0 986
GeneDx 5 6 117 45 53 0 226
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 20 44 7 0 74
Sema4, Sema4 1 4 17 20 2 0 44
Genetic Services Laboratory, University of Chicago 0 4 28 5 6 0 43
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 24 8 10 0 43
PreventionGenetics, part of Exact Sciences 1 0 7 11 3 0 22
OMIM 16 0 0 0 0 0 16
CeGaT Center for Human Genetics Tuebingen 0 3 4 4 2 0 13
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 6 0 0 0 9
Bone Marrow Failure laboratory, Queen Mary University London 0 2 4 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 5 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
GeneReviews 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Mendelics 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 2 0 2
Baylor Genetics 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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