ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.323A>T (p.Asp108Val)

dbSNP: rs137854509
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
GeneDx RCV001559780 SCV001782078 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20167518, 18625437)
UniProtKB/Swiss-Prot RCV000059364 SCV000090887 not provided Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 no assertion provided not provided

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.