ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.375-9G>T

dbSNP: rs1060503782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460356 SCV001664224 likely benign Peutz-Jeghers syndrome 2022-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003441890 SCV004170008 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Color Diagnostics, LLC DBA Color Health RCV003584617 SCV004362385 likely benign Hereditary cancer-predisposing syndrome 2021-10-02 criteria provided, single submitter clinical testing

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