ClinVar Miner

Submissions for variant NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup)

dbSNP: rs137909701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000203192 SCV000257931 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001675669 SCV001894986 benign not provided 2021-04-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16122939, 27884173)
Labcorp Genetics (formerly Invitae), Labcorp RCV001675669 SCV002402594 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601595 SCV000733008 benign Cleft lip/palate-ectodermal dysplasia syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000203192 SCV001929661 benign not specified no assertion criteria provided clinical testing

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.