ClinVar Miner

Submissions for variant GRCh37/hg19 2q24.3(chr2:166767837-167334206)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001004096 SCV001162822 pathogenic Severe myoclonic epilepsy in infancy 2018-01-04 criteria provided, single submitter clinical testing

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