ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163240 SCV000213767 likely benign Hereditary cancer-predisposing syndrome 2015-10-02 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
Counsyl RCV000113616 SCV000784903 likely benign Breast-ovarian cancer, familial 2 2017-02-08 criteria provided, single submitter clinical testing
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/).
Integrated Genetics/Laboratory Corporation of America RCV000589819 SCV000694984 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000044998 SCV000073011 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-13 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

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