ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter) (rs80356947)

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Total submissions: 7
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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) RCV000077602 SCV000299470 pathogenic Breast-ovarian cancer, familial 1 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 RCV000077602 SCV000326169 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000077602 SCV000564306 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Bioinformatics dept.,Datar Cancer Genetics Limited, India RCV000077602 SCV000584014 pathogenic Breast-ovarian cancer, familial 1 2017-07-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077602 SCV000109405 pathogenic Breast-ovarian cancer, familial 1 2012-01-06 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077602 SCV000145605 pathogenic Breast-ovarian cancer, familial 1 2013-03-25 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496876 SCV000587059 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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