ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)

gnomAD frequency: 0.00002  dbSNP: rs553697188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335771 SCV001529004 uncertain significance Intellectual disability, autosomal recessive 58 2018-06-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252365 SCV002523281 likely pathogenic See cases 2019-10-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Revvity Omics, Revvity RCV001335771 SCV003832091 likely pathogenic Intellectual disability, autosomal recessive 58 2023-08-03 criteria provided, single submitter 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.