ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2424A>G (p.Glu808=)

dbSNP: rs55646808
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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) RCV000077686 SCV000578518 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/).
Sharing Clinical Reports Project (SCRP) RCV000077686 SCV000109489 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2008-08-05 no assertion criteria provided clinical testing

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