ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) (rs864622516)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570369 SCV000661178 likely benign Hereditary cancer-predisposing syndrome 2015-09-16 criteria provided, single submitter clinical testing
Counsyl RCV000410997 SCV000489267 likely benign Breast-ovarian cancer, familial 2 2016-09-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410997 SCV000579093 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/).
Illumina Clinical Services Laboratory,Illumina RCV000205256 SCV000383734 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284643 SCV000383735 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205256 SCV000260933 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-17 criteria provided, single submitter clinical testing

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