ClinVar Miner

Variants in gene RECQL4

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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
311 127 2962 1893 146 112 5136

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baller-Gerold syndrome 295 62 2523 1563 109 13 4544
Inborn genetic diseases 4 0 1098 666 0 0 1768
not provided 27 16 246 151 53 4 456
Rothmund-Thomson syndrome type 2 21 7 115 24 38 0 199
Hereditary cancer-predisposing syndrome 3 5 88 73 12 0 181
RECQL4-related disorder 6 5 60 76 8 0 153
not specified 0 0 35 35 47 54 131
Rapadilino syndrome 3 15 0 0 57 0 74
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 7 10 46 4 1 3 69
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 1 1 34 0 0 2 38
Ovarian cancer 0 12 0 0 14 2 28
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Lung cancer 0 0 0 0 0 8 8
Rothmund-Thomson syndrome 3 3 2 0 0 0 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 3 3
Familial cancer of breast 1 0 0 0 0 2 3
Familial meningioma 0 0 2 1 0 0 3
Fetal anomalies with a likely genetic cause 2 0 1 0 0 0 3
Lymphoma 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Congenital heart disease 0 2 0 0 0 0 2
Ehlers-Danlos syndrome 2 0 0 0 0 0 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Malignant tumor of breast 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
RECQL4-related spectrum disorders 2 0 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
Absent radius 0 0 1 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 1 0 0 0 0 0 1
Baller-Gerold syndrome; Rapadilino syndrome 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatoblastoma 0 1 0 0 0 0 1
High grade surface osteosarcoma 1 0 0 0 0 0 1
Malignant fibrous histiocytoma 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Multiple myeloma 0 1 0 0 0 0 1
Pigmentary skin disorders 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 293 56 2515 1565 109 0 4538
Ambry Genetics 4 0 1098 666 0 0 1768
GeneDx 13 9 118 51 36 0 227
Sema4, Sema4 3 5 88 73 12 0 181
PreventionGenetics, part of Exact Sciences 3 3 58 82 21 0 167
CeGaT Center for Human Genetics Tuebingen 10 4 19 92 5 0 130
Breakthrough Genomics, Breakthrough Genomics 0 0 21 39 37 0 97
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 7 2 86 0 0 0 95
Eurofins Ntd Llc (ga) 8 1 29 8 31 0 77
Fulgent Genetics, Fulgent Genetics 6 3 67 1 0 0 77
Genetic Services Laboratory, University of Chicago 2 1 30 25 14 0 72
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 24 58 0 70
ITMI 0 0 0 0 0 54 54
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 47 1 1 0 49
Mayo Clinic Laboratories, Mayo Clinic 1 0 14 12 17 0 44
Baylor Genetics 2 1 39 0 0 0 42
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 41 41
Revvity Omics, Revvity 1 3 34 0 0 0 38
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 12 0 0 14 0 26
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 17 3 1 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 17 1 0 23
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 12 6 0 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 2 14 0 0 17
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 5 6 0 14
OMIM 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 13 13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 12 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 11 0 0 12
Genome-Nilou Lab 0 0 0 0 11 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 4 0 0 0 10
Dasa 6 0 0 1 2 0 9
Mendelics 2 2 3 2 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 7 0 8
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 6 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 1 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 2 2 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
3billion 2 1 0 1 0 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 2 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 1 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 1 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Dr. Guy Rouleau's laboratory, McGill University 0 0 2 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 2 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 2 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 1 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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