ClinVar Miner

Submissions for variant NM_000064.4(C3):c.-3_-2dup

dbSNP: rs528697923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301563 SCV000415126 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360987 SCV000415127 likely benign Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402040 SCV000415128 likely benign C3 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820998 SCV002066007 benign not specified 2018-10-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000360987 SCV002587623 benign Atypical hemolytic-uremic syndrome 2021-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418042 SCV004146417 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing C3: BP4, BS2

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.