ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.801C>T (p.Ile267=)

gnomAD frequency: 0.00001  dbSNP: rs539772540
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082693 SCV000629143 likely benign Peutz-Jeghers syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570226 SCV000664343 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 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 RCV000570226 SCV000911544 likely benign Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000541788 SCV001134850 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000541788 SCV001940067 likely benign not provided 2019-03-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30287823)
Sema4, Sema4 RCV000570226 SCV002526940 likely benign Hereditary cancer-predisposing syndrome 2021-08-03 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV001082693 SCV004818910 likely benign Peutz-Jeghers syndrome 2023-06-08 criteria provided, single submitter clinical testing

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