ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1672-16C>T

gnomAD frequency: 0.56164  dbSNP: rs1867864
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247694 SCV000313735 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509736 SCV001716592 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001640569 SCV001858219 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807194 SCV002054530 benign Developmental and epileptic encephalopathy, 11 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807195 SCV002054531 benign Episodic ataxia, type 9 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807193 SCV002054532 benign Seizures, benign familial infantile, 3 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000247694 SCV005087441 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 71% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 66. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001640569 SCV005239611 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000247694 SCV001743258 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000247694 SCV001932445 benign not specified no assertion criteria provided 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.