ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-17C>T

dbSNP: rs535445817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437881 SCV000523286 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580467 SCV000686697 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
Invitae RCV002062567 SCV002480628 likely benign Peutz-Jeghers syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580467 SCV004849315 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing The c.863-17C>T intronic alteration consists of a C to T substitution 17 nucleotides before coding exon 7 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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