ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) (rs1060499737)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000454218 SCV000537916 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research There is one more families with similar phenotype
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000853095 SCV000995950 likely pathogenic Intellectual disability; Neurodevelopmental delay 2019-05-30 no assertion criteria provided research
OMIM RCV000991233 SCV001142629 pathogenic Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 2020-04-20 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261667 SCV001438972 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.