ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1588A>T (p.Lys530Ter) (rs879255325)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584727 SCV000688712 pathogenic Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661871 SCV000784197 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000239040 SCV000296813 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing

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