ClinVar Miner

Submissions for variant NM_004544.4(NDUFA10):c.1000-5del

dbSNP: rs138479490
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676554 SCV000251782 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289165 SCV000429000 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344109 SCV000429001 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676554 SCV001731357 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778785 SCV002016086 benign Mitochondrial complex 1 deficiency, nuclear type 22 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001778785 SCV002797813 benign Mitochondrial complex 1 deficiency, nuclear type 22 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676554 SCV000802340 benign not provided 2016-02-22 no assertion criteria provided 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.