ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9082G>C (p.Ala3028Pro) (rs80359161)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129295 SCV000184056 likely pathogenic Hereditary cancer-predisposing syndrome 2018-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Good segregation with disease (lod 1.5-3 = 5-9 meioses),Structural Evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758971 SCV000887956 uncertain significance not provided 2017-09-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114042 SCV000147530 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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