ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=) (rs80356843)

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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) RCV000112094 SCV000578455 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/).
Ambry Genetics RCV001020270 SCV001181726 likely benign Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001460921 SCV001664803 likely benign Hereditary breast and ovarian cancer syndrome 2020-02-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112094 SCV000144761 uncertain significance Breast-ovarian cancer, familial 1 2001-10-12 no assertion criteria provided clinical testing

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