ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.465-4G>C

dbSNP: rs587780009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022849 SCV001184631 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-19 criteria provided, single submitter clinical testing The c.465-4G>C intronic variant results from a G to C substitution 4 nucleotides upstream from coding exon 4 in the STK11 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001465068 SCV001669051 likely benign Peutz-Jeghers syndrome 2023-05-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001465068 SCV002057253 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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