ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) (rs7868455)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082221 SCV000114170 benign not specified 2013-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310564 SCV000478930 benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000310564 SCV000636577 benign Chromosome 9q deletion syndrome 2017-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715139 SCV000845967 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000082221 SCV000151074 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.