ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2751A>G (p.Val917=) (rs765644162)

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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) RCV000487878 SCV000578944 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 RCV000163157 SCV000213674 likely benign Hereditary cancer-predisposing syndrome 2015-01-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768589 SCV000219317 likely benign Breast and/or ovarian cancer 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000199817 SCV000253005 benign Hereditary breast and ovarian cancer syndrome 2017-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000487878 SCV000575749 likely benign Breast-ovarian cancer, familial 2 2016-01-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502093 SCV000591819 benign not specified 2013-04-30 criteria provided, single submitter clinical testing
Color RCV000163157 SCV000688768 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing

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