ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.592+9A>G

gnomAD frequency: 0.00002  dbSNP: rs538351542
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428609 SCV000525813 likely benign not specified 2017-08-21 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.
Invitae RCV001089179 SCV000757458 likely benign Familial cancer of breast 2024-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759043 SCV000888115 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777676 SCV000913595 likely benign Hereditary cancer-predisposing syndrome 2018-01-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000428609 SCV002065303 likely benign not specified 2021-05-26 criteria provided, single submitter clinical testing

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