ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.271_272TG[1] (p.Ala92fs) (rs587776485)

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Total submissions: 4
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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) RCV000144206 SCV000299434 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000564310 SCV000668464 pathogenic Hereditary cancer-predisposing syndrome 2016-12-28 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985390 SCV001133534 pathogenic not provided 2019-06-11 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic internal patient and in literature, and not found in general population data.
Sharing Clinical Reports Project (SCRP) RCV000144206 SCV000189279 pathogenic Breast-ovarian cancer, familial 1 2012-01-05 no assertion criteria provided clinical testing

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