ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs786201228
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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 RCV000163138 SCV000213654 likely benign Hereditary cancer-predisposing syndrome 2014-08-08 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 RCV000937831 SCV001083624 likely benign Peutz-Jeghers syndrome 2023-12-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163138 SCV001355796 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000937831 SCV004816381 likely benign Peutz-Jeghers syndrome 2023-05-15 criteria provided, single submitter clinical testing

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