ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9481A>T (p.Lys3161Ter) (rs80359222)

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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) RCV000114117 SCV000301397 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 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 RCV000114117 SCV000328142 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414553 SCV000492447 pathogenic Neoplasm of the breast criteria provided, single submitter research
Breast Cancer Information Core (BIC) (BRCA2) RCV000114117 SCV000147648 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496504 SCV000588008 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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