ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1729G>T (p.Glu577Ter) (rs397508903)

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Total submissions: 5
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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) RCV000257813 SCV000323348 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257813 SCV000325130 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496331 SCV000591349 pathogenic Hereditary breast and ovarian cancer syndrome 2013-11-15 criteria provided, single submitter clinical testing
Color RCV000579407 SCV000682980 pathogenic Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496331 SCV000587160 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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