Submissions for variant NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)

gnomAD frequency: 0.00288  dbSNP: rs140425210

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221492	SCV000269077	benign	not specified	2016-02-15	criteria provided, single submitter	clinical testing	p.Gly610Ser in exon 27 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (90/7766) of African chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs140425210).
Illumina Laboratory Services, Illumina	RCV000342594	SCV000469934	likely benign	Cutis laxa, autosomal dominant 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000376205	SCV000469935	likely benign	Supravalvar aortic stenosis	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000417622	SCV000510967	benign	not provided	2017-01-02	criteria provided, single submitter	clinical testing
Invitae	RCV000376205	SCV000748714	benign	Supravalvar aortic stenosis	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000417622	SCV001850273	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23401415)