ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10251T>C (p.Tyr3417=) (rs80359779)

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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) RCV000112855 SCV000579083 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 RCV000218321 SCV000274784 likely benign Hereditary cancer-predisposing syndrome 2015-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000218321 SCV000906969 likely benign Hereditary cancer-predisposing syndrome 2018-08-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284408 SCV001470193 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Invitae RCV001431759 SCV001634518 likely benign Hereditary breast and ovarian cancer syndrome 2020-05-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112855 SCV000145773 uncertain significance Breast-ovarian cancer, familial 2 1998-08-26 no assertion criteria provided clinical testing

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