ClinVar Miner

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

dbSNP: rs2071307
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences RCV000036524 SCV000304569 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264113 SCV000469904 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319237 SCV000469905 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036524 SCV000709166 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000264113 SCV001721335 benign Supravalvar aortic stenosis 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036524 SCV003929209 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712006 SCV005272920 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036524 SCV001742226 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000036524 SCV001807639 benign not specified no assertion criteria provided clinical testing

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