ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) (rs80356828)

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Total submissions: 5
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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) RCV000112226 SCV000578094 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/).
Counsyl RCV000112226 SCV000487787 likely benign Breast-ovarian cancer, familial 1 2015-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021701 SCV001183349 likely benign Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001421144 SCV001623663 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112226 SCV000144936 uncertain significance Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing

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