ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2236dup (p.Leu746fs) (rs1553665977)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572389 SCV000669539 likely pathogenic Hereditary cancer-predisposing syndrome 2016-11-28 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),Structural Evidence

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