ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) (rs397508016)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166571 SCV000217373 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507771 SCV000600827 uncertain significance not specified 2017-01-11 criteria provided, single submitter clinical testing
Color RCV000166571 SCV000903911 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000077454 SCV001139235 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077454 SCV000109252 uncertain significance Breast-ovarian cancer, familial 2 2011-06-02 no assertion criteria provided clinical testing

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