ClinVar Miner

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

dbSNP: rs1057517626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561321 SCV000664376 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-04 criteria provided, single submitter clinical testing The c.375-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 3 in the STK11 gene. This nucleotide position is not well conserved in available vertebrate species. The BDGP and ESEfinder in silico splicing models do not produce a reliable prediction for the nearby native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002060413 SCV002332137 likely benign Peutz-Jeghers syndrome 2022-01-27 criteria provided, single submitter clinical testing

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