ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter)

dbSNP: rs397507628
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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) RCV000257796 SCV000324075 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 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 RCV000257796 SCV000326704 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496688 SCV000587542 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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