ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.374+1A>G (rs1131690951)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492655 SCV000580944 pathogenic Hereditary cancer-predisposing syndrome 2015-02-10 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,Other strong data supporting pathogenic classification,Other acmg-defined mutation (i.e. initiation codon or gross deletion)

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