ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.843G>A (p.Pro281=)

gnomAD frequency: 0.00001  dbSNP: rs756095270
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720071 SCV000519145 likely benign not provided 2020-03-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775657 SCV000910050 likely benign Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing
Invitae RCV000874100 SCV001016229 likely benign Peutz-Jeghers syndrome 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775657 SCV001178919 likely benign Hereditary cancer-predisposing syndrome 2019-05-16 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.
PreventionGenetics, part of Exact Sciences RCV003892130 SCV004716418 likely benign STK11-related disorder 2021-01-03 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 RCV000874100 SCV004818925 likely benign Peutz-Jeghers syndrome 2023-10-30 criteria provided, single submitter clinical testing

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