ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) (rs115734214)

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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 RCV000118144 SCV000152491 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000118144 SCV000171342 benign not specified 2013-12-21 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.
PreventionGenetics,PreventionGenetics RCV000118144 SCV000310786 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316016 SCV000465978 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532419 SCV000656267 benign Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2017-08-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712907 SCV000843459 benign not provided 2018-05-07 criteria provided, single submitter clinical testing

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