ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.918T>C (p.Asp306=) (rs184408918)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164004 SCV000214607 likely benign Hereditary cancer-predisposing syndrome 2014-07-22 criteria provided, single submitter clinical testing
Color RCV000164004 SCV000684032 likely benign Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000411976 SCV000489259 likely benign Breast-ovarian cancer, familial 2 2016-09-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000411976 SCV000579049 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/).
GeneDx RCV000599663 SCV000719005 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000637975 SCV000759455 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679195 SCV000805792 likely benign not provided 2017-11-02 criteria provided, single submitter clinical testing

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