ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.3G>T (p.Met1Ile) (rs72481822)

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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 RCV000758583 SCV000887330 likely pathogenic Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MLH1 NM_000249:c.3G>T has a 96.4% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 26.5 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MLH1 locus. See Shirts et al 2018, PMID 29887214.
Constitutional Genetics Lab,Leon Berard Cancer Center RCV001249905 SCV001423922 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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