ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.117C>T (p.Arg39=)

dbSNP: rs786203942
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507940 SCV000602207 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing
Invitae RCV000937456 SCV001083241 likely benign Peutz-Jeghers syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010158 SCV001170313 likely benign Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000507940 SCV003922673 likely benign not specified 2023-03-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000937456 SCV004816317 likely benign Peutz-Jeghers syndrome 2023-12-01 criteria provided, single submitter clinical testing

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