ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4965C>A (p.Tyr1655Ter) (rs80358721)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000083111 SCV000146513 pathogenic Breast-ovarian cancer, familial 2 2002-07-11 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083111 SCV000327114 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083111 SCV000733259 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083111 SCV000300808 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083111 SCV000743302 pathogenic Breast-ovarian cancer, familial 2 2014-10-08 criteria provided, single submitter clinical testing
Mendelics RCV000496256 SCV000838802 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000083111 SCV000296568 pathogenic Breast-ovarian cancer, familial 2 2016-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758902 SCV000887831 pathogenic not provided 2016-03-01 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496256 SCV000587735 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000083111 SCV000115185 pathogenic Breast-ovarian cancer, familial 2 2012-10-12 no assertion criteria provided clinical testing

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