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
63 28 659 268 77 55 1069

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baller-Gerold syndrome 44 8 637 247 64 0 1000
not specified 0 0 8 19 36 55 92
not provided 13 6 34 4 2 0 59
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 10 2 1 0 0 0 13
Inborn genetic diseases 2 0 0 0 0 0 2
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 1 0 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
Undifferentiated Pleomorphic Sarcoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 8 637 247 64 0 998
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 30 8 33 0 81
ITMI 0 0 0 0 0 55 55
Fulgent Genetics 1 0 36 0 0 0 37
PreventionGenetics 0 0 0 7 14 0 21
GeneDx 4 4 5 3 0 0 16
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 2 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 0 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 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
Vantari Genetics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1

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