ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2279del (p.Leu760fs)

dbSNP: rs886038071
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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) RCV000241190 SCV000300503 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796131 SCV005415687 likely pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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