ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.892G>A (p.Val298Ile)

gnomAD frequency: 0.00347  dbSNP: rs41526244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230601 SCV000287046 benign Supravalvar aortic stenosis 2025-02-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000394605 SCV000339749 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV001640381 SCV001856279 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29332214)
CeGaT Center for Human Genetics Tuebingen RCV001640381 SCV004032736 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ELN: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001640381 SCV005220363 likely benign not provided criteria provided, single submitter not provided

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