ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.426T>C (p.His142=)

gnomAD frequency: 0.50518  dbSNP: rs11231825
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
Illumina Laboratory Services, Illumina RCV000286659 SCV000372975 benign Dalmatian hypouricemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611294 SCV000711940 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His142His in exon 2 of SLC22A12: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 69.92% (46661/667 38) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs11231825).
Invitae RCV001518722 SCV001727470 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518722 SCV001848957 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16385546, 20714133)
Genome-Nilou Lab RCV000286659 SCV002055727 benign Dalmatian hypouricemia 2021-07-15 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.