ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8946dup (p.Asp2983fs) (rs80359733)

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Total submissions: 6
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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) RCV000031779 SCV000301322 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000223659 SCV000278123 pathogenic Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031779 SCV000328001 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000223659 SCV000905185 pathogenic Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031779 SCV000054387 pathogenic Breast-ovarian cancer, familial 2 2012-09-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031779 SCV000147493 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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