ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) (rs2071307)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036524 SCV000060179 benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Gly422Ser in exon 20 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 42% (27817/66734) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2071307).
PreventionGenetics,PreventionGenetics RCV000036524 SCV000304569 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264113 SCV000469904 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319237 SCV000469905 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036524 SCV000709166 benign not specified 2017-06-06 criteria provided, single submitter clinical testing

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