ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.828C>T (p.Gly276=)

gnomAD frequency: 0.00002  dbSNP: rs200824447
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163546 SCV000214104 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 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 RCV000198830 SCV000254559 likely benign Peutz-Jeghers syndrome 2024-01-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163546 SCV000691548 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing
Counsyl RCV000198830 SCV000786237 likely benign Peutz-Jeghers syndrome 2018-03-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284361 SCV001470108 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing
GeneDx RCV001284361 SCV001889107 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000198830 SCV002057438 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818367 SCV002072357 uncertain significance not specified 2020-03-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000198830 SCV004017924 benign Peutz-Jeghers syndrome 2023-04-12 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen RCV001284361 SCV004139040 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing STK11: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003907508 SCV004720899 likely benign STK11-related disorder 2022-09-09 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 RCV000198830 SCV004818915 likely benign Peutz-Jeghers syndrome 2023-08-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000163546 SCV000886719 likely benign Hereditary cancer-predisposing syndrome 2018-07-13 no assertion criteria provided clinical testing

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