ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-4T>C

gnomAD frequency: 0.00001  dbSNP: rs778853572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569688 SCV000672335 benign Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001500939 SCV001705740 likely benign Peutz-Jeghers syndrome 2021-09-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569688 SCV001736154 likely benign Hereditary cancer-predisposing syndrome 2020-10-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478271 SCV004221293 likely benign not provided 2023-08-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001500939 SCV004818138 likely benign Peutz-Jeghers syndrome 2023-07-10 criteria provided, single submitter clinical testing

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