ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) (rs121913294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491092 SCV000580053 likely pathogenic Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,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
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785589 SCV000924164 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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