ClinVar Miner

Submissions for variant NM_020964.2(EPG5):c.[3152C>G;4230G>A]

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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 RCV000496976 SCV000328414 pathogenic Vici syndrome 2016-08-11 no assertion criteria provided research Patient, a 15 year-old girl, showed severe developmental delay, hypotonia, seizure, and high-arched palate. Her last head circumference was 50.8 (-2.7SD). This mutaion was confirmed compound heterozygosity. Her brother who died at 14 years old also had the same mutation.

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