ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) (rs371278843)

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Total submissions: 8
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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) RCV000409819 SCV000578018 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0028 (South Asian), derived from ExAC (2014-12-17).
GeneDx RCV000160251 SCV000210669 benign not specified 2014-10-03 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.
Ambry Genetics RCV000163212 SCV000213735 likely benign Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing
Invitae RCV000198565 SCV000252615 benign Hereditary breast and ovarian cancer syndrome 2017-10-27 criteria provided, single submitter clinical testing
Counsyl RCV000409819 SCV000488659 likely benign Breast-ovarian cancer, familial 2 2016-05-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160251 SCV000592190 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Color RCV000163212 SCV000683966 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758961 SCV000887941 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing

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