ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.246C>T (p.Asn82=)

gnomAD frequency: 0.01615  dbSNP: rs3825017
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
Illumina Laboratory Services, Illumina RCV000317584 SCV000372970 benign Dalmatian hypouricemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825089 SCV000966335 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn82Asn in exon 1 of SLC22A12: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 26.81% (2266/8452) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs3825017).
Invitae RCV001512958 SCV001720473 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512958 SCV001891890 benign not provided 2018-11-12 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.