ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3354del (p.Glu1119fs) (rs80359384)

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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) RCV000113164 SCV000300623 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 RCV000113164 SCV000326856 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113164 SCV000146217 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing

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