ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1959-2A>G (rs876658214)

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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 RCV000220818 SCV000273159 likely pathogenic Hereditary cancer-predisposing syndrome 2014-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501512 SCV000591103 pathogenic Familial adenomatous polyposis 2013-01-17 criteria provided, single submitter clinical testing

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