ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter) (rs397509332)

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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) RCV000661064 SCV000783311 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000562883 SCV000665089 pathogenic Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577822 SCV000679323 not provided Familial cancer of breast no assertion provided literature only

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