ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.729G>A (p.Gln243=)

dbSNP: rs2101881311
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806849 SCV002051458 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing PP3, PM2
GeneDx RCV001806849 SCV002599863 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing Last nucleotide of exon splice site variant in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003339748 SCV004050305 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 criteria provided, single submitter clinical testing

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.