ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly)

dbSNP: rs55656324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294299 SCV000466003 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503901 SCV000596753 uncertain significance not specified 2016-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544682 SCV004784494 likely benign RELN-related disorder 2023-12-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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