ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) (rs876660507)

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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 RCV000217155 SCV000277993 pathogenic Hereditary cancer-predisposing syndrome 2015-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785382 SCV000923953 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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