ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4036del (p.Glu1346fs)

dbSNP: rs886040189
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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) RCV000257815 SCV000323703 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.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496516 SCV000587367 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358470 SCV001554212 uncertain significance not provided no assertion criteria provided clinical testing

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