Submissions for variant NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)

gnomAD frequency: 0.00318  dbSNP: rs41511151

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036527	SCV000060182	likely benign	not specified	2012-07-19	criteria provided, single submitter	clinical testing	Gly711Asp in exon 33 of ELN: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (34/8600) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS) and in 2.5% (5/196) of Tuscan (Italian) chromosomes f rom a broad population by the 1000 Genomes project (dbSNP rs41511151). Gly711A sp in exon 33 of ELN (rs41511151; allele frequency = 0.4%, 34/8600) **
Illumina Laboratory Services, Illumina	RCV000323541	SCV000469948	likely benign	Cutis laxa, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000553879	SCV000469949	likely benign	Supravalvar aortic stenosis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001528254	SCV000512929	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16374472, 16081882, 19029017, 28146470)
Invitae	RCV000553879	SCV000622207	likely benign	Supravalvar aortic stenosis	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000553879	SCV001137389	benign	Supravalvar aortic stenosis	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528254	SCV004162262	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ELN: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528254	SCV001739672	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528254	SCV001809085	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036527	SCV001932247	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036527	SCV001954612	benign	not specified		no assertion criteria provided	clinical testing