ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1342dup (rs397509042)

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Total submissions: 3
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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) RCV000661236 SCV000783498 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000585734 SCV000693524 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-01 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577742 SCV000679243 not provided Familial cancer of breast no assertion provided literature only

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