ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)

gnomAD frequency: 0.00001  dbSNP: rs1555926996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584329 SCV000689691 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000616292 SCV000715882 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584329 SCV001184690 likely benign Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001399884 SCV001601684 likely benign Familial cancer of breast 2023-12-02 criteria provided, single submitter clinical testing

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