ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8050A>G (p.Lys2684Glu) (rs1289414853)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508463 SCV000600780 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564690 SCV000664817 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
3DMed Clinical Laboratory Inc RCV000677840 SCV000804000 uncertain significance Infiltrating duct carcinoma of breast 2017-07-26 no assertion criteria provided clinical testing

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