ClinVar Miner

Submissions for variant NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn)

gnomAD frequency: 0.00041  dbSNP: rs201262483
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
Invitae RCV000903177 SCV001047632 benign not provided 2023-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495461 SCV002801586 likely benign 4p partial monosomy syndrome 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932857 SCV004747533 benign FGFRL1-related disorder 2019-02-22 criteria provided, single submitter clinical testing This variant is classified as 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.