ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.2243G>A (p.Arg748His)

gnomAD frequency: 0.00003  dbSNP: rs375516507
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000560539 SCV000656524 benign Developmental and epileptic encephalopathy, 30 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311888 SCV000847090 likely benign Inborn genetic diseases 2019-05-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV000560539 SCV000895269 uncertain significance Developmental and epileptic encephalopathy, 30 2018-10-31 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.