ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6603T>C (p.Ser2201=)

dbSNP: rs786202576
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Total submissions: 9
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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) RCV000495780 SCV000578483 likely benign Breast-ovarian cancer, familial, susceptibility to, 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/).
Ambry Genetics RCV000165450 SCV000216180 likely benign Hereditary cancer-predisposing syndrome 2014-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000759645 SCV000515321 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080421 SCV000560444 likely benign Hereditary breast ovarian cancer syndrome 2023-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759645 SCV000889105 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419341 SCV001370588 likely benign not specified 2020-05-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798590 SCV002043354 likely benign Breast and/or ovarian cancer 2020-10-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165450 SCV004362171 likely benign Hereditary cancer-predisposing syndrome 2022-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495780 SCV004844285 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-04-28 criteria provided, single submitter clinical testing

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