ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2921dup (p.Leu974fs)

dbSNP: rs80357611
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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) RCV000661375 SCV000783648 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268376 SCV001447264 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577227 SCV000679241 not provided Familial cancer of breast no assertion provided literature only

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