ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) (rs140425210)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000417622 SCV000510967 benign not provided 2017-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342594 SCV000469934 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376205 SCV000469935 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000376205 SCV000748714 benign Supravalvar aortic stenosis 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221492 SCV000269077 benign not specified 2016-02-15 criteria provided, single submitter clinical testing p.Gly610Ser in exon 27 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (90/7766) of African chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs140425210).

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