ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.677+3A>T (rs267607780)

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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 RCV000215214 SCV000274165 likely pathogenic Hereditary cancer-predisposing syndrome 2019-05-13 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);Functionally-validated splicing mutation;Well-characterized mutation at same position

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