ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.18G>C (p.Pro6=)

dbSNP: rs1555734869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632860 SCV000754056 likely benign Peutz-Jeghers syndrome 2022-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413810 SCV002721970 likely benign Hereditary cancer-predisposing syndrome 2019-12-23 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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