ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1038+51C>T (rs55986674)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000490562 SCV000106072 likely benign Lynch syndrome I 2014-10-10 reviewed by expert panel research MAF >1% in a specific ethnic group (African population)
Invitae RCV000075083 SCV000262181 benign Lynch syndrome 2016-03-29 criteria provided, single submitter clinical testing
Color RCV000580138 SCV000684710 benign Hereditary cancer-predisposing syndrome 2014-12-19 criteria provided, single submitter clinical testing
Counsyl RCV000663015 SCV000786032 benign Lynch syndrome II 2018-02-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732069 SCV000859961 benign not specified 2018-03-13 criteria provided, single submitter clinical testing

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