ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1671+49A>G

gnomAD frequency: 0.82025  dbSNP: rs1838846
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001715636 SCV001942870 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807520 SCV002054526 benign Developmental and epileptic encephalopathy, 11 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807521 SCV002054527 benign Episodic ataxia, type 9 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807519 SCV002054528 benign Seizures, benign familial infantile, 3 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594551 SCV005087298 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 91% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 85. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001715636 SCV005239610 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.