ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5652T>C (p.Ile1884=) (rs766067138)

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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) RCV000495052 SCV000578753 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 RCV000166776 SCV000217589 likely benign Hereditary cancer-predisposing syndrome 2014-11-17 criteria provided, single submitter clinical testing
Invitae RCV000204494 SCV000262153 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000428511 SCV000520380 likely benign not specified 2018-01-18 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000428511 SCV000591983 likely benign not specified 2012-04-19 criteria provided, single submitter clinical testing
Color RCV000166776 SCV000683722 likely benign Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000428511 SCV000694889 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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