ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7471delC (p.Gln2491Argfs) (rs886038170)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768636 SCV000324877 likely pathogenic Breast and/or ovarian cancer 2016-02-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241338 SCV000327667 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) RCV000241338 SCV000301168 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257946 SCV000587895 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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