ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9294C>A (p.Tyr3098Ter) (rs80359200)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000031811 SCV000147603 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031811 SCV000328101 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031811 SCV000786350 pathogenic Breast-ovarian cancer, familial 2 2018-04-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000031811 SCV000965835 pathogenic Breast-ovarian cancer, familial 2 2016-01-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031811 SCV000301375 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496360 SCV000587996 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031811 SCV000054419 pathogenic Breast-ovarian cancer, familial 2 2011-10-25 no assertion criteria provided clinical testing

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