ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.791-23del

dbSNP: rs267607797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075862 SCV000106879 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic substitution with no effect on splicing, tested with NMD inhibitor

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