ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1222dup (p.Thr408fs) (rs774440500)

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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 RCV000163829 SCV000214415 pathogenic Hereditary cancer-predisposing syndrome 2016-12-08 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)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761797 SCV000891994 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785433 SCV000924005 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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