ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.5373G>A (p.Gly1791=) (rs273901761)

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Total submissions: 9
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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) RCV000112607 SCV000578318 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/).
Invitae RCV000048919 SCV000076932 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165168 SCV000215880 likely benign Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000112607 SCV000221018 likely benign Breast-ovarian cancer, familial 1 2015-01-09 criteria provided, single submitter literature only
GeneDx RCV000434562 SCV000512319 benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics,Fulgent Genetics RCV000112607 SCV000575720 likely benign Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000434562 SCV000586908 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000165168 SCV000683286 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112607 SCV000145445 uncertain significance Breast-ovarian cancer, familial 1 2010-09-18 no assertion criteria provided clinical testing

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