ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2086+5G>C (rs111866046)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000272146 SCV000469944 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000528954 SCV000469945 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528954 SCV000622205 benign Supravalvar aortic stenosis 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000199498 SCV000269078 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2086+5G>C in intron 31 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 6.6% (290/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs111866046).
PreventionGenetics RCV000199498 SCV000304575 benign not specified criteria provided, single submitter clinical testing

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