ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7764A>T (p.Ile2588=) (rs80359798)

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Total submissions: 3
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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) RCV000113815 SCV000578511 likely benign Breast-ovarian cancer, familial 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;
Ambry Genetics RCV000569660 SCV000661201 likely benign Hereditary cancer-predisposing syndrome 2015-11-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Breast Cancer Information Core (BIC) (BRCA2) RCV000113815 SCV000147177 uncertain significance Breast-ovarian cancer, familial 2 1998-11-23 no assertion criteria provided clinical testing

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