ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.160C>T (p.Leu54=)

gnomAD frequency: 0.00001  dbSNP: rs755390787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561825 SCV000672328 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 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.
Color Diagnostics, LLC DBA Color Health RCV000561825 SCV000910030 likely benign Hereditary cancer-predisposing syndrome 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV000944484 SCV001090454 likely benign Peutz-Jeghers syndrome 2022-08-03 criteria provided, single submitter clinical testing

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