ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1573del (p.Cys525fs) (rs386833845)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000006438 SCV000596738 pathogenic Rothmund-Thomson syndrome 2017-02-23 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761024 SCV000890939 pathogenic B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 2016-01-15 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761053 SCV000890968 pathogenic High Grade Surface Osteosarcoma 2016-07-20 criteria provided, single submitter clinical testing
OMIM RCV000984856 SCV000026621 pathogenic Rothmund-Thomson syndrome type 2 2003-07-30 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049813 SCV000082222 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000169785 SCV000221750 pathogenic Baller-Gerold syndrome 2003-07-30 no assertion criteria provided literature only

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