ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.427+8C>T (rs55868272)

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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 RCV000476021 SCV000469872 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283343 SCV000469873 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476021 SCV000563051 benign Supravalvar aortic stenosis 2017-07-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036859 SCV000060514 benign not specified 2012-03-02 criteria provided, single submitter clinical testing 442+8C>T in intron 8 of ELN: This variant is not expected to have clinical signi ficance because it has been identified in 1.4% (101/7010) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs55868272).
PreventionGenetics RCV000036859 SCV000304577 benign not specified criteria provided, single submitter clinical testing

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