ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.34dup (p.Asp12fs) (rs1553637196)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506431 SCV000601395 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568453 SCV000669581 pathogenic Hereditary cancer-predisposing syndrome 2018-07-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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