ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.414A>G (p.Val138=)

gnomAD frequency: 0.00354  dbSNP: rs4899491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306965 SCV000388407 likely benign Methylmalonate semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972172 SCV001119867 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000306965 SCV002801104 likely benign Methylmalonate semialdehyde dehydrogenase deficiency 2022-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972172 SCV005212510 likely benign not provided criteria provided, single submitter not provided

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.