ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5333-304G>A (rs55633264)

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Total submissions: 3
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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) RCV000191194 SCV000244539 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01573 (Asian), derived from 1000 genomes (2012-04-30).
Color Health, Inc RCV000209678 SCV000683295 benign Hereditary cancer-predisposing syndrome 2015-04-21 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000209678 SCV000264973 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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