ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7230del (p.Phe2410fs) (rs1555286052)

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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 RCV000562444 SCV000673115 pathogenic Hereditary cancer-predisposing syndrome 2016-12-21 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)
Counsyl RCV000576388 SCV000677859 likely pathogenic Breast-ovarian cancer, familial 2 2016-12-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000576388 SCV000783720 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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