ClinVar Miner

Submissions for variant NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)

dbSNP: rs1008088032
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
Mendelics RCV000770992 SCV002517804 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2022-05-04 criteria provided, single submitter clinical testing
GeneReviews RCV000770992 SCV000902487 not provided Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy no assertion provided literature only
Yale Center for Mendelian Genomics, Yale University RCV000770992 SCV002106670 likely pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2020-02-27 no assertion criteria provided literature only
OMIM RCV000770992 SCV005045289 pathogenic Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 2024-05-22 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.