ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) (rs80356993)

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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 RCV000163799 SCV000214380 likely pathogenic Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Breast Cancer Information Core (BIC) (BRCA1) RCV000077594 SCV000145307 uncertain significance Breast-ovarian cancer, familial 1 1999-04-12 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077594 SCV000109397 uncertain significance Breast-ovarian cancer, familial 1 2013-04-19 no assertion criteria provided clinical testing

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