ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9981A>T (p.Lys3327Asn) (rs587782098)

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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 RCV000130611 SCV000185487 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Color RCV000130611 SCV000906829 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000434493 SCV000515583 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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