ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) (rs17855988)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154550 SCV000204223 benign not specified 2015-09-02 criteria provided, single submitter clinical testing p.Gly581Arg in exon 25 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 9% (6470/66700) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs17855988).
PreventionGenetics,PreventionGenetics RCV000154550 SCV000304573 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330974 SCV000469928 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383163 SCV000469929 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing

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