ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.159C>T (p.Asp53=)

dbSNP: rs876660426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012367 SCV001172806 likely benign Hereditary cancer-predisposing syndrome 2018-06-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001398969 SCV001600753 likely benign Peutz-Jeghers syndrome 2023-06-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001398969 SCV004837181 likely benign Peutz-Jeghers syndrome 2024-02-05 criteria provided, single submitter clinical testing

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