ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del)

dbSNP: rs780903069
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
CeGaT Center for Human Genetics Tuebingen RCV002262271 SCV002544393 benign not provided 2024-06-01 criteria provided, single submitter clinical testing FMN2: PM4:Supporting, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002502077 SCV002811797 likely benign Intellectual disability, autosomal recessive 47 2022-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971213 SCV004781616 likely benign FMN2-related disorder 2022-09-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.