ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3115del (p.Ala1039fs)

dbSNP: rs886040098
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Total submissions: 3
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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) RCV000256940 SCV000323564 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 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 RCV000256940 SCV000325560 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496777 SCV000587282 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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