ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) (rs63751598)

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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) RCV000075902 SCV000106918 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes aberrant splicing leading to protein conformational change and inactive protein: full inactivation of variant allele.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000075902 SCV000592384 pathogenic Lynch syndrome 2012-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561374 SCV000676030 pathogenic Hereditary cancer-predisposing syndrome 2016-03-14 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other data supporting pathogenic classification;Well-characterized mutation at same position;Deficient protein function in appropriate functional assay(s)

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