ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.791-5T>G (rs267607788)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579445 SCV000684869 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075865 SCV000106882 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes splicing aberration: full inactivation of variant allele.
Mendelics RCV000075865 SCV000838004 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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