ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) (rs80357442)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567938 SCV000668396 likely pathogenic Hereditary cancer-predisposing syndrome 2015-10-21 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,Other data supporting pathogenic classification,Well-characterized mutation at same position,Deficient protein function in appropriate functional assay(s)
Breast Cancer Information Core (BIC) (BRCA1) RCV000112580 SCV000145413 uncertain significance Breast-ovarian cancer, familial 1 2001-10-29 no assertion criteria provided clinical testing

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