ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.986A>C (p.His329Pro) (rs63750710)

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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) RCV000075954 SCV000106972 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes splicing aberrations (full inactivation of variant allele)
Ambry Genetics RCV000215121 SCV000276936 pathogenic Hereditary cancer-predisposing syndrome 2017-06-06 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification
OMIM RCV000018614 SCV000038897 pathogenic Lynch syndrome II 1997-09-01 no assertion criteria provided literature only

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