ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1667+2T>C (rs878853780)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000231513 SCV000592414 pathogenic Lynch syndrome 2012-11-13 criteria provided, single submitter clinical testing
Invitae RCV000231513 SCV000284024 likely pathogenic Lynch syndrome 2015-12-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with young onset colorectal cancer (PMID: 21056691). This variant is located in a donor dinucleotide and is expected to disrupt mRNA splicing. For these reasons, this variant has been classified as Likely Pathogenic.

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