ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1452T>C (p.Asp484=) (rs587778916)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163470 SCV000214023 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Color RCV000163470 SCV000689814 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075215 SCV000106207 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524239 SCV000555980 likely benign Hereditary nonpolyposis colon cancer 2017-11-30 criteria provided, single submitter clinical testing

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