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

dbSNP: rs2071307

Total submissions: 9

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
Invitae	RCV000264113	SCV001721335	benign	Supravalvar aortic stenosis	2024-02-01	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
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