ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) (rs200917541)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221424 SCV000276952 likely benign Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing
Color RCV000221424 SCV000684635 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000418461 SCV000523230 likely benign not specified 2016-09-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000289561 SCV000437722 uncertain significance Colorectal cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342239 SCV000437723 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000635982 SCV000757413 likely benign Familial cancer of breast 2017-12-15 criteria provided, single submitter clinical testing

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