ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2174del (p.Ser725fs)

dbSNP: rs397508944
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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) RCV000661287 SCV000783553 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577101 SCV000679586 not provided Familial cancer of breast no assertion provided literature only
BRCAlab, Lund University RCV000661287 SCV002589094 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-08-26 no assertion criteria provided clinical testing

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