ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1435+5A>T

gnomAD frequency: 0.26139  dbSNP: rs5985638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440062 SCV000518509 benign not specified 2015-12-10 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.
Ambry Genetics RCV002311460 SCV000846442 benign Inborn genetic diseases 2016-03-13 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 RCV001511775 SCV001719072 benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511775 SCV002524915 benign Developmental and epileptic encephalopathy, 36 2021-12-05 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.