ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter) (rs80358683)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677847 SCV000804007 pathogenic Cancer of the pancreas 2017-11-07 criteria provided, single submitter clinical testing
Academic Department of Medical Genetics, University of Cambridge RCV000850058 SCV000992211 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113311 SCV000146437 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113311 SCV000327045 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) RCV000113311 SCV000300758 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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