ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6203_6204insA (p.Leu2069fs)

dbSNP: rs80359566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113544 SCV000300998 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113544 SCV000327366 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113544 SCV000146788 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496392 SCV000587830 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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