ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter) (rs80359080)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000162060 SCV000327878 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Division Human Genetics,Medical University Innsbruck RCV000162060 SCV000212030 pathogenic Breast-ovarian cancer, familial 2 2015-02-11 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000162060 SCV000301267 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000162060 SCV000296611 pathogenic Breast-ovarian cancer, familial 2 2015-11-19 criteria provided, single submitter clinical testing

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