ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)

gnomAD frequency: 0.00004  dbSNP: rs776228346
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723968 SCV000233146 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000723968 SCV000241681 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000696168 SCV000824717 likely benign Intellectual disability, autosomal dominant 1 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723968 SCV001747965 likely benign not provided 2021-02-01 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.