ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)

gnomAD frequency: 0.00409  dbSNP: rs35629953
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000970800 SCV001118401 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335774 SCV001529007 uncertain significance Intellectual disability, autosomal recessive 58 2018-11-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV000970800 SCV002546005 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ELP2: BP4, BS2

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.