ClinVar Miner

Submissions for variant NC_000012.11:g.52199766_52388207del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883317 SCV004697688 likely pathogenic Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 criteria provided, single submitter clinical testing

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