ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.2831A>T (p.His944Leu)

gnomAD frequency: 0.00386  dbSNP: rs149244552
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117789 SCV000152050 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117789 SCV000203106 benign not specified 2014-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085286 SCV000636705 benign Nance-Horan syndrome 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312190 SCV000846985 benign Inborn genetic diseases 2015-08-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000826994 SCV000968601 benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000826994 SCV005274348 benign not provided criteria provided, single submitter not provided

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.