ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs)

dbSNP: rs2151060309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV002269138 SCV002552097 likely pathogenic Treacher Collins syndrome 1 no assertion criteria provided research

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