ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4678_4679del (p.Gly1560fs) (rs1555581104)

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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) RCV000660908 SCV000783144 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Yang An-Suei Laboratory,Academia Sinica RCV000504609 SCV000583406 pathogenic Neoplasm of the breast criteria provided, single submitter clinical testing

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