ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9843A>C (p.Pro3281=)

dbSNP: rs11571832
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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) RCV000112816 SCV000578496 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Breast Cancer Information Core (BIC) (BRCA2) RCV000112816 SCV000145721 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-01-24 no assertion criteria provided clinical testing

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