ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.444+19T>C (rs200501745)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212419 SCV000167687 benign not specified 2014-01-06 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 RCV000132152 SCV000187225 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
PreventionGenetics,PreventionGenetics RCV000212419 SCV000311767 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000409756 SCV000488885 likely benign Familial cancer of breast 2016-07-11 criteria provided, single submitter clinical testing
Color RCV000132152 SCV000684640 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing

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