ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1035A>G (p.Leu345=) (rs113998363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724366 SCV000224962 uncertain significance not provided 2016-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000173810 SCV000729728 likely benign not specified 2018-02-21 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.
Invitae RCV001086315 SCV001018458 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing

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