ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.693G>A (p.Thr231=)

gnomAD frequency: 0.01016  dbSNP: rs113685366
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001084216 SCV000656527 benign Developmental and epileptic encephalopathy, 30 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713293 SCV000843882 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311889 SCV000846452 benign Inborn genetic diseases 2016-05-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV000713293 SCV005275547 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.