ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=) (rs80356829)

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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) RCV000112696 SCV000578117 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/).
Color Health, Inc RCV001187573 SCV001354398 likely benign Hereditary cancer-predisposing syndrome 2019-02-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112696 SCV000145569 uncertain significance Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112696 SCV001244069 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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