ClinVar Miner

Submissions for variant NM_012096.3(APPL1):c.69A>G (p.Leu23=)

gnomAD frequency: 0.01160  dbSNP: rs11544592
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001522865 SCV001732489 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001522865 SCV001949744 benign not provided 2019-10-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803355 SCV002049070 benign Maturity-onset diabetes of the young type 14 2023-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522865 SCV005303756 benign not provided criteria provided, single submitter not provided
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital RCV001803355 SCV005419191 benign Maturity-onset diabetes of the young type 14 2024-11-14 criteria provided, single submitter 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.