ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2526A>G (p.Val842=) (rs770778164)

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Total submissions: 7
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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) RCV000495594 SCV000578952 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/).
Ambry Genetics RCV000164822 SCV000215505 likely benign Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384673 SCV000383651 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283169 SCV000383652 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859707 SCV000635228 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000495594 SCV000786041 likely benign Breast-ovarian cancer, familial 2 2018-02-09 criteria provided, single submitter clinical testing
Color RCV000164822 SCV000911754 likely benign Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing

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