ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7602G>A (p.Ala2534=) (rs81002826)

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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) RCV000494849 SCV000579136 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 RCV000164327 SCV000214958 likely benign Hereditary cancer-predisposing syndrome 2017-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000586334 SCV000695085 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000637955 SCV000759435 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Color RCV000164327 SCV000911415 likely benign Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing

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