ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter)

dbSNP: rs80356953
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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) RCV000112348 SCV000300129 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112348 SCV000145108 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496228 SCV000587403 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735507 SCV000863645 pathogenic Breast and/or ovarian cancer 2000-11-17 no assertion criteria provided clinical testing

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