ClinVar Miner

Variants in gene RECQL4

See also:
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
96 45 1063 480 94 56 1724

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baller-Gerold syndrome 80 20 1026 362 81 0 1564
not provided 14 8 48 107 7 1 183
not specified 0 0 8 19 36 55 92
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 1 1 36 0 0 0 38
Rapadilino syndrome 4 12 0 0 0 0 16
Rothmund-Thomson syndrome type 2 9 0 0 0 0 0 9
Rothmund-Thomson syndrome 3 3 1 0 0 0 7
Inborn genetic diseases 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; 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

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 20 1024 459 80 0 1661
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
GeneDx 4 5 5 5 4 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 16 3 0 0 22
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 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
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.