ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.268-28A>G

gnomAD frequency: 0.82099  dbSNP: rs7593568
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618071 SCV001846322 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807451 SCV002054520 benign Developmental and epileptic encephalopathy, 11 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807452 SCV002054521 benign Episodic ataxia, type 9 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807450 SCV002054522 benign Seizures, benign familial infantile, 3 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594411 SCV005087297 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 RCV001618071 SCV005239603 benign not provided criteria provided, single submitter not provided

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