ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.384-5C>T

gnomAD frequency: 0.00008  dbSNP: rs763318921
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
Invitae RCV000473645 SCV000554244 benign Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001712422 SCV000713950 likely benign not provided 2020-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29314583)
Genome-Nilou Lab RCV000473645 SCV002524904 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365673 SCV002623600 likely benign Inborn genetic diseases 2017-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003942501 SCV004764158 likely benign ALG13-related condition 2019-10-21 criteria provided, single submitter clinical testing This variant is classified as likely 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.