ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.968-20G>T

gnomAD frequency: 0.22426  dbSNP: rs11887309
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520807 SCV001729998 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520807 SCV001898769 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807413 SCV002054549 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807412 SCV002054550 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 RCV004594292 SCV005087890 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 RCV001520807 SCV005239585 benign not provided criteria provided, single submitter not provided

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