ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)

dbSNP: rs11243011
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
GeneDx RCV000124983 SCV000168423 benign not specified 2013-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000124983 SCV000311536 benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714927 SCV000845693 benign Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714927 SCV001731157 benign Combined oxidative phosphorylation defect type 14 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000714927 SCV001933312 benign Combined oxidative phosphorylation defect type 14 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701760 SCV001933313 benign Hereditary spastic paraplegia 77 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000124983 SCV005091750 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 28% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 26. Only high quality variants are reported.
Mayo Clinic Laboratories, Mayo Clinic RCV000677020 SCV000802853 benign not provided 2016-02-23 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.