ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.963A>G (p.Gln321=) (rs276174927)

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Total submissions: 6
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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) RCV000495764 SCV000579167 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 RCV000358197 SCV000383622 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268452 SCV000383623 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000268452 SCV000560507 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing
Color RCV000579463 SCV000684079 likely benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780029 SCV000917034 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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