ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8487+3A>G (rs81002806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571631 SCV000668580 likely pathogenic Hereditary cancer-predisposing syndrome 2018-02-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Functionally-validated splicing mutation,Other strong data supporting pathogenic classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113945 SCV000147378 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000571631 SCV000903529 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502951 SCV000592200 likely pathogenic Hereditary breast and ovarian cancer syndrome 2014-08-01 criteria provided, single submitter clinical testing

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