ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.1408G>C (p.Asp470His)

gnomAD frequency: 0.00143  dbSNP: rs61743737
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
Invitae RCV002235919 SCV001014784 benign Chondrodysplasia punctata, brachytelephalangic, autosomal 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001672974 SCV001890333 benign not provided 2021-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908288 SCV004721841 benign ARSL-related condition 2019-07-29 criteria provided, single submitter clinical testing This variant is classified as 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.