ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+500del (rs1060505045)

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Total submissions: 2
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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) RCV000477757 SCV000783193 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Medical Genetics,Oslo University Hospital RCV000477757 SCV000564314 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing

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