ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5113C>T (p.Leu1705=) (rs80356858)

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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) RCV000112500 SCV000578150 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/).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112500 SCV000145317 benign Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112500 SCV001242147 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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