ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.921-1G>C (rs398123406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414694 SCV000490837 pathogenic not provided 2015-06-19 criteria provided, single submitter clinical testing The c.921-1 G>C splice site variant in the STK11 gene has been previously reported in association with Peutz-Jeghers syndrome (Ylikorkala et al., (1999). This variant destroys the canonical splice acceptor site in intron 7, and is expected to cause abnormal gene splicing. Therefore, we interpret this variant as pathogenic.
Ambry Genetics RCV000492537 SCV000580892 pathogenic Hereditary cancer-predisposing syndrome 2014-09-22 criteria provided, single submitter clinical testing

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