ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.465+5A>G

gnomAD frequency: 0.00052  dbSNP: rs202235809
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002105205 SCV002396982 likely benign not provided 2024-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002105205 SCV004135070 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DPF2: BP4
Breakthrough Genomics, Breakthrough Genomics RCV002105205 SCV005211290 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003951064 SCV004762196 likely benign DPF2-related disorder 2022-07-06 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.