ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2391G>A (p.Lys797=) (rs587776462)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562321 SCV000661194 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
Color RCV000562321 SCV000906039 likely benign Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000144183 SCV000578876 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 RCV000257969 SCV000560415 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000144183 SCV000189256 benign Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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