ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.291-20C>G

gnomAD frequency: 0.00001  dbSNP: rs973142127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420095 SCV000522125 likely benign not specified 2015-12-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003617807 SCV004480716 likely benign Peutz-Jeghers syndrome 2023-05-30 criteria provided, single submitter clinical testing

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