ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2262del (p.Arg755fs) (rs267607904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075590 SCV000106587 uncertain significance Lynch syndrome 2019-06-21 reviewed by expert panel curation Insufficient evidence: extends protein by 25 amino acids
Mendelics RCV000075590 SCV000838031 likely pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000987192 SCV001136440 likely pathogenic Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing

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