ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6633T>C (p.Val2211=) (rs80359795)

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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) RCV000113616 SCV000578804 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/).
Invitae RCV001084991 SCV000073011 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163240 SCV000213767 likely benign Hereditary cancer-predisposing syndrome 2015-10-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855553 SCV000694984 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000113616 SCV000784903 likely benign Breast-ovarian cancer, familial 2 2017-02-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589819 SCV000889107 likely benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163240 SCV001354163 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113616 SCV000146894 uncertain significance Breast-ovarian cancer, familial 2 2003-10-29 no assertion criteria provided clinical testing

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