ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) (rs1114167640)

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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 RCV000491621 SCV000579997 pathogenic Hereditary cancer-predisposing syndrome 2016-02-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Other strong data supporting pathogenic classification
Center for Human Genetics, Inc RCV000660239 SCV000782245 likely pathogenic Cowden syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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