ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)

gnomAD frequency: 0.00133  dbSNP: rs76331338
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 RCV001082757 SCV000641827 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000827223 SCV000968852 benign not provided 2018-05-16 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.
Breakthrough Genomics, Breakthrough Genomics RCV000827223 SCV005250091 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915565 SCV004735884 benign EPG5-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as 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.