ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4959G>A (p.Val1653=)

dbSNP: rs878854955
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Total submissions: 4
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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) RCV000495586 SCV000578454 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 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/).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588113 SCV000699185 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001396144 SCV001597867 likely benign Hereditary breast ovarian cancer syndrome 2023-01-20 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000495586 SCV001243860 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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