ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1218C>G (p.Ala406=) (rs276174807)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162903 SCV000213390 likely benign Hereditary cancer-predisposing syndrome 2015-05-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112893 SCV000145832 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000162903 SCV000683407 likely benign Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000112893 SCV000488704 likely benign Breast-ovarian cancer, familial 2 2016-05-27 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112893 SCV000579074 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/).
GeneDx RCV000606290 SCV000714586 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000043758 SCV000071771 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-01 criteria provided, single submitter clinical testing

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