ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1815dup (p.Pro606fs)

dbSNP: rs80359310
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Total submissions: 5
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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) RCV000112980 SCV000300464 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 RCV000112980 SCV000326620 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000496380 SCV000591773 pathogenic Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112980 SCV000145954 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496380 SCV000587615 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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