ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6155C>A (p.Ser2052Ter) (rs786202461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165281 SCV000215998 pathogenic Hereditary cancer-predisposing syndrome 2015-10-15 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)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241265 SCV000300990 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758921 SCV000887869 pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing

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