ClinVar Miner

Submissions for variant NM_001958.4(EEF1A2):c.754G>C (p.Asp252His) (rs786205865)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845037 SCV000986873 not provided Epileptic encephalopathy, early infantile, 33 no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 10/30/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000172839 SCV000223805 pathogenic Mental retardation, autosomal dominant 38 2015-04-01 no assertion criteria provided literature only

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.