ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) (rs34666647)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121948 SCV000248689 uncertain significance not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV001079354 SCV000288252 benign Baller-Gerold syndrome 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121948 SCV000332632 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232650 SCV001155568 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000232650 SCV001865208 benign not provided 2020-01-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15897384, 30007837, 12734318, 24728327)
ITMI RCV000121948 SCV000086155 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000232650 SCV001798702 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232650 SCV001809121 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000232650 SCV001931146 likely benign not provided no assertion criteria provided clinical testing

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