ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1566T>A (p.Gly522=) (rs61734584)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000197401 SCV000341155 likely benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260725 SCV000469924 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000470810 SCV000469925 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470810 SCV000563050 benign Supravalvar aortic stenosis 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000197401 SCV000270183 benign not specified 2016-07-13 criteria provided, single submitter clinical testing p.Gly528Gly in exon 23 of ELN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (283/66738) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNPrs61734584).

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