ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1543-20C>G

gnomAD frequency: 0.00004  dbSNP: rs551645416
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441668 SCV000524005 likely benign not specified 2017-09-06 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.
Color Diagnostics, LLC DBA Color Health RCV001180797 SCV001345812 likely benign Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing
Invitae RCV001861534 SCV002243342 likely benign Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001180797 SCV002709298 likely benign Hereditary cancer-predisposing syndrome 2015-12-16 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.

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