ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) (rs397507239)

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Total submissions: 5
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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) RCV000031207 SCV000300194 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 RCV000031207 SCV000326129 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031207 SCV000785794 pathogenic Breast-ovarian cancer, familial 1 2017-11-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031207 SCV000053807 pathogenic Breast-ovarian cancer, familial 1 2010-05-12 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031207 SCV001242039 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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