ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.544C>T (p.Leu182=)

dbSNP: rs1057522875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721330 SCV000529813 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV000530197 SCV000629125 likely benign Peutz-Jeghers syndrome 2022-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348211 SCV002648122 likely benign Hereditary cancer-predisposing syndrome 2015-10-03 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.
Color Diagnostics, LLC DBA Color Health RCV002348211 SCV004362390 likely benign Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000530197 SCV004816370 likely benign Peutz-Jeghers syndrome 2023-09-17 criteria provided, single submitter clinical testing

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