ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.840C>A (p.Pro280=)

dbSNP: rs1471868090
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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 RCV000773881 SCV000907581 likely benign Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV001464995 SCV001668976 likely benign Peutz-Jeghers syndrome 2022-09-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000773881 SCV002526945 likely benign Hereditary cancer-predisposing syndrome 2021-05-02 criteria provided, single submitter curation
Ambry Genetics RCV000773881 SCV002680267 likely benign Hereditary cancer-predisposing syndrome 2020-12-15 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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