ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)

gnomAD frequency: 0.00002  dbSNP: rs946613180
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001253531 SCV001429284 uncertain significance Dent disease type 1 2019-06-06 criteria provided, single submitter clinical testing This variant was identified as hemizygous
Fulgent Genetics, Fulgent Genetics RCV002491858 SCV002799622 uncertain significance Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2022-03-10 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.