ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.319+8C>A

dbSNP: rs776443322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423336 SCV000534391 likely benign not specified 2016-11-29 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.
Invitae RCV000933216 SCV001078910 likely benign Familial cancer of breast 2023-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423336 SCV002819931 uncertain significance not specified 2022-12-31 criteria provided, single submitter clinical testing

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