ClinVar Miner

Submissions for variant NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)

gnomAD frequency: 0.00770  dbSNP: rs769938205
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
AiLife Diagnostics, AiLife Diagnostics RCV002224677 SCV002502672 uncertain significance not provided 2022-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502042 SCV002784898 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 2022-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002224677 SCV004125163 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CFHR1: BS1

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.