ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) (rs80359698)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129438 SCV000184208 uncertain significance Hereditary cancer-predisposing syndrome 2014-08-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113891 SCV000147303 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000257933 SCV000324856 uncertain significance Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000113891 SCV000605683 likely pathogenic Breast-ovarian cancer, familial 2 2015-05-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758956 SCV000887933 likely pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496772 SCV000587940 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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