ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.209+5G>A (rs1114167650)

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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 RCV000491938 SCV000580012 pathogenic Hereditary cancer-predisposing syndrome 2017-03-13 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,Good segregation with disease (lod 1.5-3 = 5-9 meioses),Other strong data supporting pathogenic classification,Deficient protein function in appropriate functional assay(s)
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000516142 SCV000579225 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

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