ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.134-16T>C

gnomAD frequency: 0.00001  dbSNP: rs782791376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197812 SCV001368592 uncertain significance Williams syndrome 2018-11-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069286 SCV002352882 likely benign Supravalvar aortic stenosis 2023-12-24 criteria provided, single submitter clinical testing

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