ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=)

gnomAD frequency: 0.00006  dbSNP: rs758652224
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
GeneDx RCV000428585 SCV000524479 likely benign not specified 2016-03-01 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.
CeGaT Center for Human Genetics Tuebingen RCV000997260 SCV001152482 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SCN2A: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001416118 SCV001618290 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2025-01-12 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.