ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.314T>G (p.Leu105Ter) (rs80358561)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219806 SCV000276405 pathogenic Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077293 SCV000146563 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496591 SCV000586915 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077293 SCV000326816 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077293 SCV000282376 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735536 SCV000863674 pathogenic Breast and/or ovarian cancer 2000-12-05 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077293 SCV000109090 pathogenic Breast-ovarian cancer, familial 2 2009-02-28 no assertion criteria provided clinical testing

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