ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.186G>A (p.Lys62=)

gnomAD frequency: 0.00001  dbSNP: rs1215771465
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582574 SCV000691490 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001435472 SCV001638295 likely benign Peutz-Jeghers syndrome 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000937393 SCV001768698 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001435472 SCV005425395 likely benign Peutz-Jeghers syndrome 2024-03-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001435472 SCV006090267 benign Peutz-Jeghers syndrome 2025-03-25 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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