ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5553C>T (p.Ile1851=) (rs573514896)

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Total submissions: 5
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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) RCV000494897 SCV000579059 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 RCV000163180 SCV000213701 likely benign Hereditary cancer-predisposing syndrome 2013-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000433283 SCV000534266 likely benign not specified 2016-11-23 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 RCV000535521 SCV000635457 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-03 criteria provided, single submitter clinical testing
Color RCV000163180 SCV000906110 likely benign Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing

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