ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=)

gnomAD frequency: 0.14798  dbSNP: rs13297480
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
Genetic Services Laboratory, University of Chicago RCV000146368 SCV000193652 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515728 SCV001723866 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001515728 SCV001937600 benign not provided 2021-02-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775632 SCV002014258 benign Hydrocephalus, nonsyndromic, autosomal recessive 2 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515728 SCV005266719 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.