ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4921_4924del (p.Glu1641fs) (rs397507344)

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Total submissions: 2
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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) RCV000031514 SCV000300798 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) RCV000031514 SCV000054119 pathogenic Breast-ovarian cancer, familial 2 2011-09-21 no assertion criteria provided clinical testing

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