ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.595-6T>G

gnomAD frequency: 0.00003  dbSNP: rs774848576
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
Invitae RCV002524940 SCV003524935 likely benign not provided 2022-08-12 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509099 SCV000607022 not provided Combined oxidative phosphorylation defect type 24 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.