ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.582C>T (p.Ser194=)

dbSNP: rs761126328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234645 SCV000289692 likely benign Familial cancer of breast 2023-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000428889 SCV000526915 likely benign not specified 2016-04-15 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.
Ambry Genetics RCV002356299 SCV002650811 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 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 RCV000428889 SCV004029043 likely benign not specified 2023-07-17 criteria provided, single submitter clinical testing

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