ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1164_1168del (p.Pro389fs) (rs886038061)

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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 RCV000509767 SCV000607918 pathogenic Hereditary cancer-predisposing syndrome 2016-07-22 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)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241363 SCV000300401 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 RCV000506449 SCV000600468 pathogenic not provided 2017-06-06 criteria provided, single submitter clinical testing

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