ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) (rs587780890)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212470 SCV000167693 benign not specified 2013-10-28 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.
Ambry Genetics RCV000124266 SCV000213524 likely benign Hereditary cancer-predisposing syndrome 2014-06-23 criteria provided, single submitter clinical testing
Invitae RCV000195471 SCV000253481 likely benign Familial cancer of breast 2018-01-06 criteria provided, single submitter clinical testing
Counsyl RCV000195471 SCV000489050 likely benign Familial cancer of breast 2016-08-10 criteria provided, single submitter clinical testing
Color RCV000124266 SCV000684602 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679676 SCV000806872 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679676 SCV000888108 likely benign not provided 2017-11-30 criteria provided, single submitter clinical testing

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