ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1732-5C>T (rs587778941)

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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 RCV000129241 SCV000183999 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other data supporting benign classification
Invitae RCV000075337 SCV000555972 likely benign Lynch syndrome 2016-10-17 criteria provided, single submitter clinical testing

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