ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)

dbSNP: rs1794880739
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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 RCV001196683 SCV001367314 pathogenic Williams syndrome 2019-09-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2,PP4.

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