ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) (rs80358785)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568762 SCV000668525 pathogenic Hereditary cancer-predisposing syndrome 2017-08-30 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113452 SCV000146654 pathogenic Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113452 SCV000327252 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) RCV000113452 SCV000300911 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
OMIM RCV000009937 SCV000030158 pathogenic Wilms tumor 1 2005-02-01 no assertion criteria provided literature only
OMIM RCV000009938 SCV000030159 risk factor Glioma susceptibility 3 2005-02-01 no assertion criteria provided literature only
OMIM RCV000009939 SCV000030160 pathogenic Medulloblastoma 2005-02-01 no assertion criteria provided literature only
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496664 SCV000587785 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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