ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs) (rs397507826)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132018 SCV000187077 pathogenic Hereditary cancer-predisposing syndrome 2015-08-05 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)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770730 SCV000902211 pathogenic Breast and/or ovarian cancer 2017-09-07 criteria provided, single submitter clinical testing
Color RCV000132018 SCV000911765 pathogenic Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000076953 SCV000327347 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000076953 SCV000488035 pathogenic Breast-ovarian cancer, familial 2 2015-12-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000076953 SCV000282420 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000496519 SCV000694935 pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508580 SCV000600678 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496519 SCV000587822 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000076953 SCV000108750 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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