ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.222+8C>G

gnomAD frequency: 0.00006  dbSNP: rs113659919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000676284 SCV001039811 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196971 SCV001367606 benign Mitochondrial complex 1 deficiency, nuclear type 16 2018-11-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
GeneDx RCV000676284 SCV001848019 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980300 SCV004792366 likely benign NDUFAF5-related disorder 2020-03-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676284 SCV000802040 likely benign not provided 2016-02-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001830472 SCV002092884 likely benign Mitochondrial complex I deficiency 2020-11-09 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.