ClinVar Miner

Submissions for variant NM_020964.2(EPG5):c.[2T>C;5792delT]

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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 RCV000496982 SCV000328413 pathogenic Vici syndrome 2016-08-11 no assertion criteria provided research Patient, a 7 year-old girl, showed severe developmental delay, hypotonia, seizure, hypopigmentation, and high-arched palate. Her last head circumference was 48.0 (-2.6SD). This mutaion was confirmed compound heterozygosity. Her sister also had the same mutaion.

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