ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2738_2742ACTTG[1] (p.Thr915fs) (rs786204752)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000239268 SCV000541007 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000169607 SCV000326751 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000169607 SCV000221129 likely pathogenic Breast-ovarian cancer, familial 2 2015-02-11 criteria provided, single submitter literature only
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000169607 SCV000300554 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000239268 SCV000296817 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759592 SCV000889009 pathogenic not provided 2018-02-13 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496389 SCV000587641 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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