ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7915C>G (p.Pro2639Ala) (rs80359017)

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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 RCV000564997 SCV000666031 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-25 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,Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113838 SCV000147215 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000564997 SCV000683915 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113838 SCV000297555 uncertain significance Breast-ovarian cancer, familial 2 2008-08-04 no assertion criteria provided clinical testing

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