ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1092G>A (p.Gln364=)

dbSNP: rs1555739339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584253 SCV000691468 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584253 SCV001178307 likely benign Hereditary cancer-predisposing syndrome 2019-07-18 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.
Invitae RCV002061945 SCV002353681 likely benign Peutz-Jeghers syndrome 2023-01-04 criteria provided, single submitter clinical testing

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