ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2103+1G>T (rs267607888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075531 SCV000106528 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Color Health, Inc RCV000446141 SCV000537620 pathogenic Hereditary cancer-predisposing syndrome 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000483619 SCV000568571 likely pathogenic not provided 2021-06-08 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 15342696, 25525159, 27247567, 27152634, 18772310, 27535533, 28195393, 12799449, 20533529, 22753075, 31297992)

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