ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.182A>G (p.His61Arg) (rs398123316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Herman Laboratory,Nationwide Children's Hospital RCV000490582 SCV000579264 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491953 SCV000579972 likely pathogenic Hereditary cancer-predisposing syndrome 2013-11-26 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,Well-characterized mutation at same position,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785574 SCV000924147 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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