ClinVar Miner

Submissions for variant NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) (rs1060499734)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000454203 SCV000537910 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research There is one more families with similar phenotype
OMIM RCV000516158 SCV000612153 pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2019-08-20 no assertion criteria provided literature only

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.