ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4047G>A (p.Thr1349=) (rs758515222)

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Total submissions: 7
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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) RCV000495765 SCV000578397 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 RCV000732061 SCV000260130 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000215970 SCV000277005 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000417405 SCV000515942 likely benign not specified 2016-10-10 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.
Color RCV000215970 SCV000683146 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732061 SCV000859947 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000417405 SCV000918735 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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