ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)

gnomAD frequency: 0.00019  dbSNP: rs148418212
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
Genetic Services Laboratory, University of Chicago RCV000193140 SCV000248175 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317699 SCV000850283 benign Inborn genetic diseases 2016-10-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000878906 SCV001021897 benign Nance-Horan syndrome 2024-01-30 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.