ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.970del (p.Glu324fs) (rs876658247)

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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 RCV000220801 SCV000273242 pathogenic Hereditary cancer-predisposing syndrome 2015-01-05 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)

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