ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9272G>A (p.Arg3091His)

gnomAD frequency: 0.00059  dbSNP: rs147005963
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000943303 SCV001089248 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000943303 SCV001985135 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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.