ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.63T>G (p.Tyr21Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University RCV004736433 SCV004808384 pathogenic Intellectual disability, autosomal dominant 50 no assertion criteria provided clinical testing

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