ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)

dbSNP: rs2136433359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244226 SCV002512615 likely pathogenic Hyper-IgM syndrome type 2 2021-11-30 criteria provided, single submitter clinical testing ACMG classification criteria: PS1 strong, PS3 supporting, PS4 supporting, PM2 moderate, PM3 supporting

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.