ClinVar Miner

Variants in gene RECQL4

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Minimum submission review status: Collection method:
Minimum conflict level:
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
297 122 2710 1732 146 75 4734

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baller-Gerold syndrome 284 61 2493 1534 109 13 4475
Inborn genetic diseases 4 0 569 377 0 0 950
not provided 25 15 217 125 53 4 406
Hereditary cancer-predisposing syndrome 3 5 88 73 12 0 181
Rothmund-Thomson syndrome type 2 20 7 98 24 38 0 181
RECQL4-related disorder 6 5 60 76 8 0 153
not specified 0 0 35 32 43 54 129
Rapadilino syndrome 3 15 0 0 57 0 74
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 6 4 46 4 1 3 62
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 1 1 34 0 0 1 37
Ovarian cancer 0 12 0 0 14 0 26
Rothmund-Thomson syndrome 3 3 2 0 0 0 8
Congenital heart disease 0 2 0 0 0 0 2
Malignant tumor of breast 0 0 2 0 0 0 2
RECQL4-related spectrum disorders 2 0 0 0 0 0 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
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
Multiple myeloma 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 283 56 2485 1536 109 0 4469
Ambry Genetics 4 0 569 377 0 0 950
GeneDx 13 8 104 51 36 0 212
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 69 6 0 108
Breakthrough Genomics, Breakthrough Genomics 0 0 21 39 37 0 97
Eurofins Ntd Llc (ga) 8 1 29 8 31 0 77
Fulgent Genetics, Fulgent Genetics 6 3 67 1 0 0 77
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 2 69 0 0 0 77
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 24 58 0 70
Genetic Services Laboratory, University of Chicago 1 1 24 25 14 0 65
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
Baylor Genetics 2 1 39 0 0 0 42
Revvity Omics, Revvity 0 3 25 0 0 0 28
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
OMIM 14 0 0 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 5 6 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
Mendelics 1 2 3 2 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 7 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 2 2 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 1 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 1 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 2 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 1 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 2 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
3billion 1 0 0 1 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 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
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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