ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.609G>C (p.Pro203=)

dbSNP: rs786201228
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165969 SCV000216726 likely benign Hereditary cancer-predisposing syndrome 2014-10-01 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 RCV000458692 SCV000554130 likely benign Peutz-Jeghers syndrome 2023-12-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165969 SCV001355797 likely benign Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002228755 SCV002511508 likely benign not specified 2022-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937513 SCV004756493 likely benign STK11-related disorder 2024-03-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000458692 SCV004816382 likely benign Peutz-Jeghers syndrome 2023-06-26 criteria provided, single submitter clinical testing

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