ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.27G>A (p.Leu9=)

dbSNP: rs876659432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805497 SCV002053072 likely benign Hereditary cancer-predisposing syndrome 2021-06-27 criteria provided, single submitter clinical testing
Invitae RCV002074199 SCV002473495 likely benign Peutz-Jeghers syndrome 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001805497 SCV003884643 likely benign Hereditary cancer-predisposing syndrome 2023-01-21 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.
All of Us Research Program, National Institutes of Health RCV002074199 SCV004816297 likely benign Peutz-Jeghers syndrome 2023-10-30 criteria provided, single submitter clinical testing

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