ClinVar Miner

Variants in gene DIS3L2

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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
82 56 1338 894 83 21 2367

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Perlman syndrome 81 53 1297 836 58 2 2258
not provided 1 1 49 103 35 0 181
Inborn genetic diseases 0 0 126 5 0 0 131
DIS3L2-related disorder 0 4 23 44 2 0 73
not specified 0 0 3 9 10 0 22
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Ovarian cancer 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Hepatoblastoma 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lymphoma 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 0 0 0 0 0 1 1
Nephroblastoma 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 76 30 1217 820 50 0 2193
Ambry Genetics 0 0 126 5 0 0 131
Illumina Laboratory Services, Illumina 0 0 69 6 16 0 91
GeneDx 0 1 24 34 30 0 89
PreventionGenetics, part of Exact Sciences 0 4 23 44 5 0 76
Fulgent Genetics, Fulgent Genetics 0 1 59 1 1 0 62
Breakthrough Genomics, Breakthrough Genomics 0 0 11 25 25 0 61
CeGaT Center for Human Genetics Tuebingen 0 0 2 55 2 0 59
Sema4, Sema4 0 1 24 22 1 0 48
Baylor Genetics 1 19 16 0 0 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 18 1 0 0 21
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 19 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 2 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 4 8 0 14
Revvity Omics, Revvity 0 0 12 0 0 0 12
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 8 1 1 0 10
Genetic Services Laboratory, University of Chicago 0 0 2 6 1 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 3 0 5
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
OMIM 3 0 0 0 0 0 3
3billion 0 1 0 1 0 0 2
Dasa 0 0 0 1 1 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 0 2
Bionano Laboratories 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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