ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1044C>T (p.Asp348=)

gnomAD frequency: 0.00004  dbSNP: rs778274196
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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 RCV000165486 SCV000216217 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 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 RCV000200651 SCV000253243 likely benign Peutz-Jeghers syndrome 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001535424 SCV000518138 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165486 SCV000686580 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421041 SCV000920270 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165486 SCV002531624 likely benign Hereditary cancer-predisposing syndrome 2021-03-14 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001535424 SCV004139042 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing STK11: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003491899 SCV004239712 likely benign Breast and/or ovarian cancer 2023-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927550 SCV004741227 likely benign STK11-related disorder 2019-03-26 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 RCV000200651 SCV004818968 likely benign Peutz-Jeghers syndrome 2023-10-27 criteria provided, single submitter clinical testing

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