ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2670del (p.Ser891fs)

dbSNP: rs80357659
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Total submissions: 6
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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) RCV000111912 SCV000299806 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111912 SCV000325423 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237428 SCV002009457 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111912 SCV000144505 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-06-20 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785355 SCV000923923 pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research
BRCAlab, Lund University RCV000111912 SCV004244080 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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