ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) (rs80357303)

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Total submissions: 9
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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) RCV000077587 SCV000300163 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240804 SCV000265863 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077587 SCV000326044 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509637 SCV000607771 pathogenic Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000077587 SCV000677654 pathogenic Breast-ovarian cancer, familial 1 2016-12-05 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000240804 SCV000803973 pathogenic Neoplasm of the breast 2018-05-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077587 SCV000109390 pathogenic Breast-ovarian cancer, familial 1 2006-07-18 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077587 SCV000145183 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496525 SCV000587427 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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