ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.594_597delTGTG (rs797045175)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258289 SCV000326365 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024704 SCV001186772 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
University of Washington Center for Mendelian Genomics, University of Washington RCV000191042 SCV000246116 pathogenic Fanconi anemia, complementation group A 2015-05-19 no assertion criteria provided research
OMIM RCV000585825 SCV000693741 pathogenic FANCONI ANEMIA, COMPLEMENTATION GROUP S 2015-02-01 no assertion criteria provided literature only
OMIM RCV000258289 SCV000693742 pathogenic Breast-ovarian cancer, familial 1 2015-02-01 no assertion criteria provided literature only

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