ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.911G>C (p.Arg304Pro) (rs376280361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492320 SCV000580937 pathogenic Hereditary cancer-predisposing syndrome 2015-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Well-characterized mutation at same position,Other strong data supporting pathogenic classification,Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family

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