ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.3153T>C (p.Thr1051=) (rs1057521053)

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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) RCV000495468 SCV000578153 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/).
GeneDx RCV000433211 SCV000520801 likely benign not specified 2018-03-07 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.
Invitae RCV000758807 SCV000560219 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563401 SCV000660988 likely benign Hereditary cancer-predisposing syndrome 2016-01-12 criteria provided, single submitter clinical testing
Color RCV000563401 SCV000688422 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758807 SCV000887660 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000563401 SCV000787900 likely benign Hereditary cancer-predisposing syndrome 2017-06-23 no assertion criteria provided clinical testing

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