ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.57G>C (p.Ser19=)

gnomAD frequency: 0.00003  dbSNP: rs748698151
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163525 SCV000214083 likely benign Hereditary cancer-predisposing syndrome 2015-09-21 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 RCV000163525 SCV000537489 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000461063 SCV000554119 likely benign Peutz-Jeghers syndrome 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001675646 SCV001894922 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000461063 SCV002057391 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907506 SCV004724835 likely benign STK11-related disorder 2019-06-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000461063 SCV004816305 likely benign Peutz-Jeghers syndrome 2023-10-30 criteria provided, single submitter clinical testing

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