ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1315+17C>T

gnomAD frequency: 0.79828  dbSNP: rs2856728
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000200638 SCV000304570 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000200638 SCV000709167 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657983 SCV001876006 benign Cutis laxa, autosomal dominant 1 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV002054295 SCV002400277 benign Supravalvar aortic stenosis 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000200638 SCV003929206 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000200638 SCV001742595 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000200638 SCV001807714 benign not specified no assertion criteria provided clinical testing

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