ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)

dbSNP: rs2519440480
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004556892 SCV005045538 likely pathogenic Dent disease type 1 2024-03-12 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP
Fulgent Genetics, Fulgent Genetics RCV005040695 SCV005682713 likely pathogenic Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2024-06-24 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.