ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) (rs80359406)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216461 SCV000278213 pathogenic Hereditary cancer-predisposing syndrome 2015-09-13 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113228 SCV000146314 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000216461 SCV000906905 pathogenic Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Counsyl RCV000113228 SCV000488437 likely pathogenic Breast-ovarian cancer, familial 2 2016-03-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113228 SCV000300673 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 RCV000496958 SCV000587683 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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