ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.418del (p.Leu140fs) (rs397518440)

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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 RCV000492134 SCV000580916 pathogenic Hereditary cancer-predisposing syndrome 2013-09-10 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,Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
OMIM RCV000007875 SCV000028080 pathogenic Peutz-Jeghers syndrome 1998-12-01 no assertion criteria provided literature only

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