ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1622-14C>T

gnomAD frequency: 0.00002  dbSNP: rs782637446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838700 SCV000980578 likely benign not provided 2018-04-26 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 RCV001858431 SCV002318208 uncertain significance Supravalvar aortic stenosis 2021-11-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 679060). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs782637446, gnomAD 0.003%). This sequence change falls in intron 25 of the ELN gene. It does not directly change the encoded amino acid sequence of the ELN protein.

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