ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly)

dbSNP: rs55656324
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239044 SCV000297182 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288339 SCV000466000 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672683 SCV001882709 benign not provided 2015-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544680 SCV004797559 benign RELN-related disorder 2019-05-09 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000239044 SCV001919741 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000239044 SCV001964994 benign not specified no assertion criteria provided clinical testing

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