ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4796-38C>A

gnomAD frequency: 0.86075  dbSNP: rs303828
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598838 SCV001827408 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807435 SCV002054587 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807432 SCV002054588 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807433 SCV002054589 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807434 SCV002054590 benign Seizures, benign familial infantile, 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594374 SCV005087759 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 98% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 91. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001598838 SCV005228887 benign not provided criteria provided, single submitter not provided

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