ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1205dup (p.Ser403fs) (rs1555592219)

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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) RCV000661213 SCV000783473 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507651 SCV000600240 pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509706 SCV000607929 pathogenic Hereditary cancer-predisposing syndrome 2016-08-22 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)

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