ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.342G>A (p.Val114=)

gnomAD frequency: 0.00001  dbSNP: rs1441012455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157706 SCV002412050 likely benign Peutz-Jeghers syndrome 2021-10-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002157706 SCV006094942 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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