ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.438A>G (p.Leu146=) (rs200942633)

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Total submissions: 6
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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) RCV000494912 SCV000579159 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 RCV000543681 SCV000635364 likely benign not provided 2018-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574203 SCV000665005 likely benign Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing
Color RCV000574203 SCV000688871 likely benign Hereditary cancer-predisposing syndrome 2017-10-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781061 SCV000918858 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Mendelics RCV000494912 SCV001138958 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing

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