ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.173G>A (p.Arg58His)

gnomAD frequency: 0.00011  dbSNP: rs199893058
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001459546 SCV001663389 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2025-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136080 SCV003823394 uncertain significance not provided 2020-09-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003136080 SCV005220167 likely benign not provided criteria provided, single submitter not provided

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.