ClinVar Miner

Submissions for variant NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000200681 SCV000255484 likely pathogenic DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 2012-06-05 criteria provided, single submitter clinical testing

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