ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) (rs63750216)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075896 SCV000106912 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes splicing aberrations: full inactivation of variant allele. In-frame transcript interrupts ATPase domain.
Ambry Genetics RCV000218998 SCV000276711 pathogenic Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

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