ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9172T>C (p.Leu3058=) (rs2286261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262648 SCV000465914 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529430 SCV000656373 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing

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