ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.921-8G>C

dbSNP: rs863224362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229236 SCV001401676 uncertain significance Peutz-Jeghers syndrome 2019-09-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 7 of the STK11 gene. It does not directly change the encoded amino acid sequence of the STK11 protein.

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