ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) (rs80356988)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131825 SCV000186880 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon,Other strong data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA1) RCV000031186 SCV000145149 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031186 SCV000326021 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse RCV000031186 SCV000538190 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031186 SCV000053786 likely pathogenic Breast-ovarian cancer, familial 1 2012-09-13 no assertion criteria provided clinical testing

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