ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) (rs80243096)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576420 SCV000677181 benign Alport syndrome, autosomal recessive 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000251989 SCV000716957 benign not specified 2017-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000352823 SCV000428088 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000251989 SCV000711822 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ile967Val in exon 32 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 4.54% (445/9802) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs80243096).
PreventionGenetics RCV000251989 SCV000302106 benign not specified criteria provided, single submitter clinical testing

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.