ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.631-1G>A

dbSNP: rs1553322031
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
Baylor Genetics RCV004574037 SCV004191829 pathogenic Mitochondrial trifunctional protein deficiency 1 2024-02-10 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988118 SCV004804677 likely pathogenic Mitochondrial trifunctional protein deficiency 2 2024-03-17 criteria provided, single submitter research

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.