ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) (rs786201236)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163149 SCV000213666 likely benign Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing
Color RCV000163149 SCV000683590 likely benign Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000494959 SCV000744448 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724574 SCV000225150 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494959 SCV000579139 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 RCV000173956 SCV000512357 likely benign not specified 2016-04-19 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000494959 SCV000743292 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000535168 SCV000635317 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing

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