ClinVar Miner

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

gnomAD frequency: 0.00283  dbSNP: rs61734584
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Total submissions: 9
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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
Invitae RCV000470810 SCV000563050 benign Supravalvar aortic stenosis 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727627 SCV002497522 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ELN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004530152 SCV004734614 benign ELN-related disorder 2019-03-27 criteria provided, single submitter 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).
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

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