ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.1381-34G>A

gnomAD frequency: 0.21988  dbSNP: rs58539679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647733 SCV001857103 benign not provided 2021-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807459 SCV002054547 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807458 SCV002054548 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 RCV004594428 SCV005087889 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 30% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001647733 SCV005239577 benign not provided criteria provided, single submitter not provided

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