ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.765G>A (p.Lys255=)

dbSNP: rs750596640
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581518 SCV000689720 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000636037 SCV000757468 likely benign Familial cancer of breast 2023-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581518 SCV001189106 likely benign Hereditary cancer-predisposing syndrome 2018-01-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193686 SCV001362698 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001569123 SCV001793123 likely benign not provided 2019-08-27 criteria provided, single submitter clinical testing

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