ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)

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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 RCV003405211 SCV004123109 likely pathogenic Treacher Collins syndrome 1 2023-07-01 criteria provided, single submitter research

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