ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1732-9T>C

dbSNP: rs267607857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075338 SCV000106335 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic substitution with no effect on splicing, tested with NMD inhibitor
Invitae RCV002055078 SCV002467453 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-10-28 criteria provided, single submitter clinical testing

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