ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)

dbSNP: rs63751682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075452 SCV000106449 uncertain significance Lynch syndrome 1 2018-06-13 reviewed by expert panel curation Variant reclassification: MLH1 methylation not tested in tumour

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