ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.159A>T (p.Gly53=)

gnomAD frequency: 0.00004  dbSNP: rs200810494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551473 SCV000622201 likely benign Supravalvar aortic stenosis 2023-08-19 criteria provided, single submitter clinical testing
GeneDx RCV003320668 SCV004025875 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing

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