ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.598-14C>T

gnomAD frequency: 0.00004  dbSNP: rs769378511
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583412 SCV000691528 likely benign Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001619803 SCV001843764 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809684 SCV002057420 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001809684 SCV002383077 likely benign Peutz-Jeghers syndrome 2024-01-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001809684 SCV004824031 likely benign Peutz-Jeghers syndrome 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583412 SCV004849314 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-04 criteria provided, single submitter clinical testing The c.598-14C>T intronic alteration consists of a C to T substitution 14 nucleotides before coding exon 5 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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