ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1017G>A (p.Pro339=)

gnomAD frequency: 0.00001  dbSNP: rs773049570
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215793 SCV000277569 likely benign Hereditary cancer-predisposing syndrome 2015-08-05 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.
GeneDx RCV000423882 SCV000520820 likely benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000215793 SCV000686575 likely benign Hereditary cancer-predisposing syndrome 2016-05-29 criteria provided, single submitter clinical testing
Invitae RCV000632859 SCV000754055 likely benign Peutz-Jeghers syndrome 2024-01-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000215793 SCV002531619 likely benign Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000632859 SCV004818958 likely benign Peutz-Jeghers syndrome 2023-07-22 criteria provided, single submitter clinical testing

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