ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1074G>T (p.Val358=) (rs276174805)

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Total submissions: 5
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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) RCV000112878 SCV000578678 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; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000162902 SCV000213389 likely benign Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780027 SCV000917032 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000927624 SCV001073212 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112878 SCV000145812 benign Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing

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