ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) (rs55703767)

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 RCV000576605 SCV000677179 benign Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000243299 SCV000732303 benign not specified 2017-05-09 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 RCV000306912 SCV000428156 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000243299 SCV000711931 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp326Tyr in exon 17 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 21.64% (14422/66634) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs55703767).
PreventionGenetics RCV000243299 SCV000302090 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.