ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3014G>A (p.Arg1005Gln) (rs4251691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080892 SCV000112794 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
GeneDx RCV000834334 SCV000976103 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000080892 SCV000086151 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics RCV000080892 SCV000310034 benign not specified criteria provided, single submitter clinical testing

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