ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9468A>G (p.Gln3156=) (rs753503094)

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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) RCV000495049 SCV000579045 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/).
Invitae RCV000589274 SCV000560384 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575688 SCV000666070 likely benign Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000855555 SCV000695244 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589274 SCV000887965 likely benign not provided 2018-01-30 criteria provided, single submitter clinical testing

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