ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989921 SCV004806007 likely pathogenic Treacher Collins syndrome 1 2024-03-25 criteria provided, single submitter clinical testing

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