ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) (rs768735660)

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Total submissions: 8
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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) RCV000210983 SCV000578782 likely benign Breast-ovarian cancer, familial 2 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/).
Michigan Medical Genetics Laboratories,University of Michigan RCV000210983 SCV000195978 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163695 SCV000214269 likely benign Hereditary cancer-predisposing syndrome 2016-06-16 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.
Invitae RCV001083404 SCV000283225 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759610 SCV000889038 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163695 SCV000911198 likely benign Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781060 SCV000918853 likely benign not specified 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000759610 SCV001900822 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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