ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.120A>C (p.Ser40=)

gnomAD frequency: 0.14357  dbSNP: rs10844308
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250836 SCV000311815 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000675856 SCV001724125 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000675856 SCV001755755 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660303 SCV001875626 benign Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660304 SCV001875627 benign Optic atrophy 5 2021-07-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000250836 SCV004848617 benign not specified 2022-02-04 criteria provided, single submitter clinical testing The p.Ser40Ser variant in DNM1L is classified as benign because it has been identified in 12.4% of total chromosomes in gnomAD, including 2316 homozygous individuals (https://gnomad.broadinstitute.org/).
Breakthrough Genomics, Breakthrough Genomics RCV000675856 SCV005229899 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675856 SCV000801579 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.