ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4677T>C (p.Phe1559=) (rs786201540)

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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) RCV000410925 SCV000579019 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 RCV000163841 SCV000214427 likely benign Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing
Counsyl RCV000410925 SCV000488786 likely benign Breast-ovarian cancer, familial 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000424524 SCV000512362 likely benign not specified 2018-01-03 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.
Invitae RCV000553433 SCV000635396 likely benign not provided 2018-07-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769696 SCV000901112 likely benign Breast and/or ovarian cancer 2017-02-07 criteria provided, single submitter clinical testing
Color RCV000163841 SCV000903837 likely benign Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000553433 SCV001133808 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing

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