ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.579C>T (p.Ser193=)

gnomAD frequency: 0.00001  dbSNP: rs730881961
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213013 SCV000211681 benign not specified 2014-08-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160972 SCV000213863 likely benign Hereditary cancer-predisposing syndrome 2015-01-12 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.
Eurofins Ntd Llc (ga) RCV000725212 SCV000335028 uncertain significance not provided 2015-09-04 criteria provided, single submitter clinical testing
Invitae RCV001082620 SCV000554111 likely benign Peutz-Jeghers syndrome 2023-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160972 SCV000686664 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082620 SCV002057262 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160972 SCV002531711 likely benign Hereditary cancer-predisposing syndrome 2021-10-29 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003945256 SCV004759807 likely benign STK11-related disorder 2019-11-01 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 RCV001082620 SCV004816375 likely benign Peutz-Jeghers syndrome 2023-12-13 criteria provided, single submitter clinical testing

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