ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)

dbSNP: rs17855988
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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 RCV000154550 SCV000204223 benign not specified 2015-09-02 criteria provided, single submitter clinical testing p.Gly581Arg in exon 25 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 9% (6470/66700) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs17855988).
PreventionGenetics, part of Exact Sciences RCV000154550 SCV000304573 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330974 SCV000469928 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383163 SCV000469929 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000330974 SCV001721336 benign Supravalvar aortic stenosis 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657877 SCV001876008 benign Cutis laxa, autosomal dominant 1 2021-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154550 SCV003929208 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723722 SCV005265871 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000154550 SCV001808366 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723722 SCV001958532 likely benign not provided no assertion criteria provided clinical testing

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