ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) (rs397509295)

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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) RCV000083222 SCV000300280 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496623 SCV000586912 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083222 SCV000115296 pathogenic Breast-ovarian cancer, familial 1 2011-08-23 no assertion criteria provided clinical testing

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