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

gnomAD frequency: 0.00283  dbSNP: rs61734584

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Eurofins Ntd Llc (ga)	RCV000197401	SCV000341155	likely benign	not specified	2016-05-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260725	SCV000469924	likely benign	Cutis laxa, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000470810	SCV000469925	likely benign	Supravalvar aortic stenosis	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470810	SCV000563050	benign	Supravalvar aortic stenosis	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727627	SCV002497522	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ELN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001727627	SCV005220367	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000197401	SCV001808013	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727627	SCV001969986	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530152	SCV004734614	benign	ELN-related disorder	2019-03-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).