ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.847-7T>G

gnomAD frequency: 0.00001  dbSNP: rs1057520267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425715 SCV000512591 likely benign not specified 2016-03-02 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 RCV001475129 SCV001679317 likely benign Familial cancer of breast 2023-12-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000425715 SCV004024648 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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