ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3249T>C (p.Asn1083=) (rs876659029)

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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) RCV000495351 SCV000579080 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 RCV000217178 SCV000274993 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000427707 SCV000532253 likely benign not specified 2016-09-25 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 RCV000427707 SCV000591851 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing
Invitae RCV000928231 SCV001073838 likely benign not provided 2018-09-10 criteria provided, single submitter clinical testing

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