ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1203C>T (p.Ser401=)

gnomAD frequency: 0.00002  dbSNP: rs764876761
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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 RCV000569955 SCV000672312 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 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 RCV000569955 SCV000691478 likely benign Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing
Invitae RCV001499326 SCV001704088 likely benign Peutz-Jeghers syndrome 2023-11-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001499326 SCV004819010 likely benign Peutz-Jeghers syndrome 2023-03-04 criteria provided, single submitter clinical testing

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