ClinVar Miner

Submissions for variant NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences RCV000496979 SCV000328418 pathogenic Vici syndrome 2016-08-11 no assertion criteria provided research Patient, a 4 year-old giel, showed severe developmental delay,hypotonia, seizure, hypopigmentation, and high-arched palate. This mutation was confirmed compound geterozygosity.

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