ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter) (rs397509157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661301 SCV000783567 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577149 SCV000679618 not provided Familial cancer of breast no assertion provided literature only

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