ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter) (rs80358538)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000077288 SCV000146135 pathogenic Breast-ovarian cancer, familial 2 2001-11-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077288 SCV000326782 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077288 SCV000677673 likely pathogenic Breast-ovarian cancer, familial 2 2017-01-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077288 SCV000300569 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Sharing Clinical Reports Project (SCRP) RCV000077288 SCV000109085 pathogenic Breast-ovarian cancer, familial 2 2006-02-10 no assertion criteria provided clinical testing

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