ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1003C>T (p.Leu335=) (rs267607812)

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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) RCV000075070 SCV000106059 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no splicing aberration, tested using NMD inhibitors
Color RCV000580632 SCV000684705 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000972046 SCV001119736 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580632 SCV001169755 likely benign Hereditary cancer-predisposing syndrome 2015-08-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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