ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) (rs273898678)

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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) RCV000111775 SCV000578215 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 RCV000565919 SCV000665891 likely benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Counsyl RCV000111775 SCV000784988 likely benign Breast-ovarian cancer, familial 1 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV001456934 SCV001660728 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111775 SCV000144309 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing

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