ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) (rs41511151)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036527 SCV000512929 likely benign not specified 2018-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000323541 SCV000469948 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000553879 SCV000469949 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553879 SCV000622207 likely benign Supravalvar aortic stenosis 2017-11-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036527 SCV000060182 likely benign not specified 2012-07-19 criteria provided, single submitter clinical testing Gly711Asp in exon 33 of ELN: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (34/8600) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS) and in 2.5% (5/196) of Tuscan (Italian) chromosomes f rom a broad population by the 1000 Genomes project (dbSNP rs41511151). Gly711A sp in exon 33 of ELN (rs41511151; allele frequency = 0.4%, 34/8600) **

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