ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.427+8C>T

gnomAD frequency: 0.01032  dbSNP: rs55868272
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036859 SCV000060514 benign not specified 2012-03-02 criteria provided, single submitter clinical testing 442+8C>T in intron 8 of ELN: This variant is not expected to have clinical signi ficance because it has been identified in 1.4% (101/7010) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs55868272).
PreventionGenetics, part of Exact Sciences RCV000036859 SCV000304577 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000476021 SCV000469872 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283343 SCV000469873 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000476021 SCV000563051 benign Supravalvar aortic stenosis 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001668155 SCV001883222 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036859 SCV005203057 benign not specified 2024-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668155 SCV005220359 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000036859 SCV001809705 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036859 SCV001930658 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.