ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8632G>A (p.Glu2878Lys) (rs398122710)

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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 RCV000131955 SCV000187012 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240702 SCV000265921 likely pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Sharing Clinical Reports Project (SCRP) RCV000077638 SCV000109441 uncertain significance Breast-ovarian cancer, familial 2 2007-11-27 no assertion criteria provided clinical testing

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