ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7464A>C (p.Arg2488Ser) (rs80358969)

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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 RCV000164219 SCV000214840 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000113764 SCV000147096 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000164219 SCV000683874 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759655 SCV000889126 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113764 SCV000297551 uncertain significance Breast-ovarian cancer, familial 2 2012-09-14 no assertion criteria provided clinical testing

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