ClinVar Miner

Submissions for variant NM_003587.5(DHX16):c.2091G>T (p.Gln697His)

dbSNP: rs1582931640
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000853103 SCV000995958 likely pathogenic Enlarged kidney; Multiple renal cysts; Reduced renal corticomedullary differentiation 2019-05-30 no assertion criteria provided research
OMIM RCV000991226 SCV001142622 pathogenic Neuromuscular disease and ocular or auditory anomalies with or without seizures 2020-07-14 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261675 SCV001438980 likely pathogenic Neurodevelopmental disorders no assertion criteria provided research

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.