ClinVar Miner

Submissions for variant NM_001167617.2(MLH1):c.-48_-46CTA[1] (rs786202328)

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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 RCV000165082 SCV000215785 likely pathogenic Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing Well-characterized mutation at same position;Other strong data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Other data supporting pathogenic classification

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