ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.2070G>A (p.Ser690=)

gnomAD frequency: 0.00511  dbSNP: rs142850918
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215336 SCV000269084 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser690Ser in Exon 10 of ESPN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.8% (53/7014) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142850918).
GeneDx RCV000971842 SCV000717966 benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Invitae RCV000971842 SCV001119513 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000215336 SCV001477231 benign not specified 2020-03-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971842 SCV001501862 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ESPN: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000971842 SCV002049828 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503840 SCV002810148 likely benign Autosomal recessive nonsyndromic hearing loss 36; Usher syndrome, type 1M 2021-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927901 SCV004744568 benign ESPN-related condition 2021-11-12 criteria provided, single submitter 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.