ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) (rs80357349)

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Total submissions: 8
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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) RCV000077583 SCV000300152 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131834 SCV000186889 pathogenic Hereditary cancer-predisposing syndrome 2018-01-02 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077583 SCV000326029 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508627 SCV000605889 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing
Color RCV000131834 SCV000909014 pathogenic Hereditary cancer-predisposing syndrome 2020-05-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077583 SCV000109386 pathogenic Breast-ovarian cancer, familial 1 2011-11-08 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077583 SCV000145157 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496210 SCV000587420 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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