ClinVar Miner

Submissions for variant NM_014191.3(SCN8A):c.4877G>A (p.Arg1626His) (rs886044328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000378250 SCV000344480 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000760191 SCV000890020 likely pathogenic Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 2017-04-25 criteria provided, single submitter clinical testing

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