ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5052T>C (p.Thr1684=)

dbSNP: rs760922019
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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) RCV000495447 SCV000578216 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000436073 SCV000519562 likely benign not specified 2015-09-30 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 RCV000472156 SCV000560228 likely benign Hereditary breast ovarian cancer syndrome 2023-05-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774934 SCV000908996 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774934 SCV001185369 likely benign Hereditary cancer-predisposing syndrome 2019-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480296 SCV002774109 likely benign not provided 2023-08-03 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000495447 SCV001243987 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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