ClinVar Miner

Submissions for variant NM_001243226.3(TCF4):c.286+1G>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 Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV002284996 SCV002574738 pathogenic Pitt-Hopkins syndrome 2022-06-30 criteria provided, single submitter clinical testing

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