ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1593dupA (p.Glu532Argfs) (rs397507272)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031329 SCV000300442 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031329 SCV000326572 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509948 SCV000607816 pathogenic Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759577 SCV000888984 pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031329 SCV000053934 pathogenic Breast-ovarian cancer, familial 2 2008-09-01 no assertion criteria provided clinical testing

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