ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.582C>A (p.Asp194Glu) (rs786202134)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164794 SCV000215474 likely pathogenic Hereditary cancer-predisposing syndrome 2014-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Database of Curated Mutations (DoCM) RCV000437423 SCV000505236 likely pathogenic Pancreatic Neoplasms 2014-12-26 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582180 SCV000692047 likely pathogenic not provided no assertion criteria provided clinical testing

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