ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5194-2A>C (rs80358069)

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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 RCV000571663 SCV000661044 likely pathogenic Hereditary cancer-predisposing syndrome 2018-03-16 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576907 SCV000679626 not provided Familial cancer of breast no assertion provided literature only

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