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

dbSNP: rs17855988

Total submissions: 9

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
Invitae	RCV000330974	SCV001721336	benign	Supravalvar aortic stenosis	2024-02-01	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
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