ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.207+5G>C (rs587781518)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129504 SCV000184276 likely pathogenic Hereditary cancer-predisposing syndrome 2019-02-26 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Functionally-validated splicing mutation;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
University of Washington Department of Laboratory Medicine, University of Washington RCV000491027 SCV000579490 pathogenic Lynch syndrome 2016-03-25 criteria provided, single submitter clinical testing RNA evidence indicating exon 2 skipping and familial co-segregation analysis indicated evidence for cosegregation of this variant with colon cancers that have loss of MLH1 on IHC (likelihood ratio 25.28, LOD: 1.4). Taken together this is sufficient evidence for variant pathogenicity.

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