ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5397C>T (p.Thr1799=)

dbSNP: rs1131692096
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Total submissions: 3
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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) RCV000495237 SCV000578158 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/).
Invitae RCV001430210 SCV001632941 likely benign Hereditary breast ovarian cancer syndrome 2019-04-29 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000495237 SCV001243226 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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