ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs) (rs1593733806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761848 SCV000892053 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022551 SCV001184303 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Insufficient evidence

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