ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.213+6del

dbSNP: rs535285068
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000322728 SCV000345375 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV001085316 SCV001016565 benign Baller-Gerold syndrome 2023-11-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255353 SCV002527852 likely benign Hereditary cancer-predisposing syndrome 2022-03-10 criteria provided, single submitter curation
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000322728 SCV001979331 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000322728 SCV001980258 likely benign not provided no assertion criteria provided clinical testing

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