ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8489+4_8489+7del

dbSNP: rs794727753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179109 SCV000231305 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291198 SCV001479623 likely pathogenic Lissencephaly no assertion criteria provided research

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