ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.326-20C>T

gnomAD frequency: 0.00066  dbSNP: rs200397639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249758 SCV000304576 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249758 SCV000718073 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002057367 SCV002403133 benign Supravalvar aortic stenosis 2023-11-18 criteria provided, single submitter clinical testing

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