ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.716G>A (p.Trp239Ter)

dbSNP: rs730881975
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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 RCV001197734 SCV001368513 pathogenic Carcinoma of pancreas 2019-12-11 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4,PP5.

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