ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.198A>G (p.Gln66=) (rs28897700)

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Total submissions: 9
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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) RCV000113265 SCV000578005 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0069 (South Asian), derived from ExAC (2014-12-17).
Invitae RCV000167850 SCV000071946 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162901 SCV000213388 likely benign Hereditary cancer-predisposing syndrome 2014-07-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167850 SCV000383604 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377649 SCV000383605 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499809 SCV000591663 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Color RCV000162901 SCV000683467 likely benign Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000499809 SCV000805662 benign not specified 2017-09-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113265 SCV000146362 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing

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