ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5278-2del (rs878853285)

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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) RCV000225450 SCV000282243 pathogenic Breast-ovarian cancer, familial 1 2016-04-03 reviewed by expert panel curation Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. Variant allele produces r.5278_5332del and r.5278_5285del transcripts (encoding predicted non-functional proteins).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225450 SCV000326246 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing

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