ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) (rs63750523)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491347 SCV000580128 likely pathogenic Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Other data supporting pathogenic classification
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502171 SCV000592652 likely pathogenic Lynch syndrome 2014-09-10 criteria provided, single submitter clinical testing

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