ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1050C>T (p.Asp350=)

gnomAD frequency: 0.00002  dbSNP: rs779583262
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163620 SCV000214187 likely benign Hereditary cancer-predisposing syndrome 2014-12-08 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 RCV000541935 SCV000629057 likely benign Peutz-Jeghers syndrome 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163620 SCV000686582 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001532363 SCV000729258 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532363 SCV001747896 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing STK11: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001818369 SCV002046668 benign not specified 2021-02-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000541935 SCV002057453 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818369 SCV002070222 likely benign not specified 2020-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965197 SCV004779381 likely benign STK11-related disorder 2020-02-24 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 RCV000541935 SCV004818969 likely benign Peutz-Jeghers syndrome 2023-12-07 criteria provided, single submitter clinical testing

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