ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.23+687G>A

gnomAD frequency: 0.02344  dbSNP: rs61733257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003624453 SCV001472983 benign X-linked chondrodysplasia punctata 1 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001713079 SCV001940732 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713079 SCV005278975 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003908498 SCV004723068 benign ARSL-related disorder 2019-10-31 no assertion criteria provided 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.