ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1179C>T (p.Asn393=)

gnomAD frequency: 0.00002  dbSNP: rs863224360
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198229 SCV000253245 likely benign Peutz-Jeghers syndrome 2023-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775663 SCV000910063 likely benign Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775663 SCV001170311 likely benign Hereditary cancer-predisposing syndrome 2019-08-20 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284239 SCV001469911 benign not specified 2020-08-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000198229 SCV002057697 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000775663 SCV002531651 likely benign Hereditary cancer-predisposing syndrome 2020-09-30 criteria provided, single submitter curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.