ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.305A>C (p.Glu102Ala) (rs1553640334)

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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 RCV000565793 SCV000676065 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,RNA Studies,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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