ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5310G>C (p.Gly1770=)

dbSNP: rs273901761
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Total submissions: 6
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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) RCV000495476 SCV000578342 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/).
Invitae RCV000204287 SCV000259917 likely benign Hereditary breast ovarian cancer syndrome 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570610 SCV000665889 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 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 RCV001284553 SCV001470395 likely benign not provided 2020-02-21 criteria provided, single submitter clinical testing
GeneDx RCV001284553 SCV001982759 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30209399)
Brotman Baty Institute, University of Washington RCV000495476 SCV001242606 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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