ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1224C>T (p.Gly408=)

dbSNP: rs1555740206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572625 SCV000672310 likely benign Hereditary cancer-predisposing syndrome 2016-09-28 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.
Invitae RCV001481328 SCV001685670 likely benign Peutz-Jeghers syndrome 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001481328 SCV004843871 likely benign Peutz-Jeghers syndrome 2023-11-20 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596280 SCV005089919 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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