ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.70G>C (p.Asp24His) (rs786201995)

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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 RCV000165524 SCV000216256 pathogenic Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678734 SCV000804906 pathogenic not specified 2014-05-21 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785578 SCV000924151 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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