ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1767C>T (p.Ala589=)

gnomAD frequency: 0.00006  dbSNP: rs117816525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000527610 SCV001790851 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Invitae RCV002060286 SCV002323852 likely benign Supravalvar aortic stenosis 2023-10-07 criteria provided, single submitter clinical testing

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