ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.597+21del

dbSNP: rs534445875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584370 SCV000691520 likely benign Hereditary cancer-predisposing syndrome 2017-08-20 criteria provided, single submitter clinical testing
Invitae RCV002061952 SCV002375180 benign Peutz-Jeghers syndrome 2023-12-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268215 SCV002552012 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584370 SCV002655681 likely benign Hereditary cancer-predisposing syndrome 2015-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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