ClinVar Miner

Variants in gene RECQL4

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Minimum submission review status: Collection method:
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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
149 57 1614 623 100 56 2473

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baller-Gerold syndrome 133 30 1573 555 87 0 2373
not provided 15 8 56 110 7 1 195
not specified 0 0 8 19 36 55 92
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 1 1 36 0 0 0 38
Rothmund-Thomson syndrome type 2 10 0 23 0 0 0 33
Rapadilino syndrome 4 14 0 0 1 0 19
Rothmund-Thomson syndrome 3 3 2 0 0 0 8
Inborn genetic diseases 2 0 0 0 0 0 2
Malignant tumor of breast 0 0 2 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; Rothmund-Thomson syndrome type 2 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 0 1 0 1
High grade surface osteosarcoma 1 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Undifferentiated pleomorphic sarcoma 0 1 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 131 29 1569 600 86 0 2415
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 1 30 8 33 0 81
ITMI 0 0 0 0 0 55 55
Fulgent Genetics,Fulgent Genetics 1 0 36 0 0 0 37
Baylor Genetics 1 0 27 0 0 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 17 5 0 0 26
GeneDx 4 5 5 5 4 0 23
PreventionGenetics, PreventionGenetics 0 0 0 7 14 0 21
OMIM 14 0 0 0 0 0 14
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 12 0 0 0 0 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 1 0 0 9
Genetic Services Laboratory, University of Chicago 1 0 3 3 0 0 7
Mendelics 0 1 3 2 1 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 2 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 3 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 1 1 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 2 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Medical Genetics Lab, Xi'an Fourth Hospital 0 1 0 0 0 0 1

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