ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.2191G>A (p.Val731Met)

gnomAD frequency: 0.00002  dbSNP: rs754186165
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001261669 SCV001438974 likely pathogenic Neurodevelopmental disorders no assertion criteria provided research
OMIM RCV000991235 SCV001142631 pathogenic Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 2020-07-14 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000853097 SCV000995952 likely pathogenic Seizure; Intellectual disability; Neurodevelopmental delay 2019-05-30 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.