ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.212C>T (p.Ala71Val) (rs41350445)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296928 SCV000469862 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000457034 SCV000469863 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457034 SCV000563054 benign Supravalvar aortic stenosis 2017-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036526 SCV000060181 likely benign not specified 2012-04-16 criteria provided, single submitter clinical testing Ala71Val in exon 5 of ELN: This variant has been reported in 2 Asian individual' s with isolated congenital ductus arteriosus aneurysm (Jan 2009). However, it is not expected to have clinical significance because it has been identified in 0. 9% (20/2222) of chromosomes from a broad, unspecified population (dbSNP rs413504 45).

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