ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter)

dbSNP: rs876659852
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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) RCV000477778 SCV000783267 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Medical Genetics, Oslo University Hospital RCV000477778 SCV000564297 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-07-01 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496237 SCV000587194 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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