ClinVar Miner

Submissions for variant NM_000791.4(DHFR):c.-319G>A

gnomAD frequency: 0.00001  dbSNP: rs749586225
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944324 SCV001090293 likely benign not provided 2024-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427362 SCV002681217 likely benign Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465812 SCV002761124 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000944324 SCV005376342 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing
PreventionGenetics, part of Exact Sciences RCV003895733 SCV004711967 likely benign MSH3-related disorder 2023-06-06 no assertion criteria provided 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).

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.