ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=) (rs276174888)

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Total submissions: 7
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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) RCV000113700 SCV000578884 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/).
Invitae RCV001079440 SCV000073145 likely benign Hereditary breast and ovarian cancer syndrome 2020-05-11 criteria provided, single submitter clinical testing
Counsyl RCV000113700 SCV000487853 likely benign Breast-ovarian cancer, familial 2 2015-12-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487763 SCV000574954 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570273 SCV000661287 likely benign Hereditary cancer-predisposing syndrome 2016-04-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000570273 SCV001353908 likely benign Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113700 SCV000147012 uncertain significance Breast-ovarian cancer, familial 2 2011-03-02 no assertion criteria provided clinical testing

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