ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7847del (p.Ser2616fs) (rs80359685)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213408 SCV000275264 pathogenic Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113833 SCV000147202 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Counsyl RCV000113833 SCV000677698 likely pathogenic Breast-ovarian cancer, familial 2 2017-05-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113833 SCV000301208 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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