ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.695-46A>G

gnomAD frequency: 0.22613  dbSNP: rs9333576
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001597642 SCV001831122 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807431 SCV002054552 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807430 SCV002054553 benign Epilepsy, familial focal, with variable foci 4 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594372 SCV005087844 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 33% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 31. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001597642 SCV005239588 benign not provided criteria provided, single submitter not provided

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