ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.290+18G>T

dbSNP: rs757929417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002197172 SCV002349026 likely benign Peutz-Jeghers syndrome 2022-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017894 SCV004849312 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-07 criteria provided, single submitter clinical testing The c.290+18G>T intronic alteration consists of a G to T substitution 8 nucleotides after coding exon 1 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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