ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-666del (rs1135401868)

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Total submissions: 4
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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) RCV000661337 SCV000783607 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496901 SCV000591476 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575053 SCV000668489 pathogenic Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496901 SCV000587351 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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