ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1914G>C (p.Val638=)

gnomAD frequency: 0.03859  dbSNP: rs60818038
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
Illumina Laboratory Services, Illumina RCV000381595 SCV000408813 likely benign Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289660 SCV000408814 likely benign Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001512745 SCV001720205 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001512745 SCV001886840 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278499 SCV002566480 benign Connective tissue disorder 2021-06-18 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.