ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6947_6950del (p.Lys2316fs) (rs398122571)

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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) RCV000241040 SCV000301115 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 RCV000241040 SCV000327546 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000241040 SCV000108778 pathogenic Breast-ovarian cancer, familial 2 2011-05-02 no assertion criteria provided clinical testing

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