ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1135-48C>T

gnomAD frequency: 0.78368  dbSNP: rs2291265
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829847 SCV000971579 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001807356 SCV002054564 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807353 SCV002054565 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807354 SCV002054566 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807355 SCV002054567 benign Seizures, benign familial infantile, 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594148 SCV005087402 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 74% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 69. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000829847 SCV005228868 benign not provided criteria provided, single submitter not provided

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