ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)

gnomAD frequency: 0.00011  dbSNP: rs202093478
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000954351 SCV001100979 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488038 SCV002795736 likely benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2022-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954351 SCV005229094 benign not provided criteria provided, single submitter not provided

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.