ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.793-17T>C

gnomAD frequency: 0.00002  dbSNP: rs778511901
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436257 SCV000523996 likely benign not specified 2017-07-18 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 RCV000581701 SCV000689726 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Counsyl RCV000662961 SCV000785933 likely benign Familial cancer of breast 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000662961 SCV002348739 benign Familial cancer of breast 2024-01-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662961 SCV004020159 likely benign Familial cancer of breast 2023-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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