ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1269C>G (p.Val423=) (rs61734583)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036525 SCV000060180 likely benign not specified 2011-07-01 criteria provided, single submitter clinical testing Val423Val in exon 20 of ELN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located near a splice junction.
Illumina Clinical Services Laboratory,Illumina RCV000355482 SCV000469906 likely benign Supravalvar aortic stenosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000260612 SCV000469907 likely benign Cutis laxa, autosomal dominant 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000036525 SCV000715214 likely benign not specified 2017-11-28 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 RCV000355482 SCV000748721 likely benign Supravalvar aortic stenosis 2019-12-31 criteria provided, single submitter clinical testing

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