ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly)

dbSNP: rs55656324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347957 SCV000466001 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692038 SCV001914441 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700350 SCV001918116 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700350 SCV001965675 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004544681 SCV004794390 benign RELN-related disorder 2021-09-16 no assertion criteria provided 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).

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