ClinVar Miner

Submissions for variant NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys)

gnomAD frequency: 0.00041  dbSNP: rs138497004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238596 SCV000297178 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057268 SCV002451023 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002057268 SCV004134492 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing GUCY2C: BP4

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.