ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-3_863-2dup

dbSNP: rs2080787306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203779 SCV001374956 likely benign Peutz-Jeghers syndrome 2022-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375133 SCV002688482 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-28 criteria provided, single submitter clinical testing The c.863-3_863-2dupCA intronic variant, results from a duplication of CA four nucleotides upstream from coding exon 7 of the STK11 gene. These nucleotide positions are highly 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.

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