ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)

gnomAD frequency: 0.00153  dbSNP: rs143822761
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145135 SCV000192181 uncertain significance Microcephaly 5, primary, autosomal recessive 2014-05-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726421 SCV000344518 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000726421 SCV000525055 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726421 SCV001114127 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965091 SCV004777766 likely benign ASPM-related disorder 2020-10-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.