ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.-269C>G (rs35032294)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075057 SCV000106608 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research No effect on transcription & MAF 0.01-1%
Ambry Genetics RCV000162413 SCV000212752 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Invitae RCV000075057 SCV000262312 benign Lynch syndrome 2016-03-31 criteria provided, single submitter clinical testing
Mendelics RCV000987142 SCV001136363 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing

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