ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.678-1G>A (rs267607784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000758642 SCV000887401 likely pathogenic Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MLH1 NM_000249.3:c.678-1G>A has a 98.1% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 1.56 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the MLH1 locus. See Shirts et al 2018, PMID 29887214.
Human Genetics - Radboudumc,Radboudumc RCV001724148 SCV001958908 pathogenic not provided no assertion criteria provided clinical testing

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