ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.893T>C (p.Val298Ala)

gnomAD frequency: 0.00001  dbSNP: rs782205353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196992 SCV001367627 uncertain significance Williams syndrome 2020-03-31 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: PM2,BP4.

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