ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) (rs869320788)

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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) RCV000210965 SCV000578382 likely benign Breast-ovarian cancer, familial 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/).
Michigan Medical Genetics Laboratories,University of Michigan RCV000210965 SCV000267696 uncertain significance Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Invitae RCV000548399 SCV000635824 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-18 criteria provided, single submitter clinical testing
Color RCV000583757 SCV000688359 likely benign Hereditary cancer-predisposing syndrome 2016-11-03 criteria provided, single submitter clinical testing

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