ClinVar Miner

Submissions for variant NM_001109878.2(TBX22):c.539C>T (p.Pro180Leu)

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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 RCV003990194 SCV004806587 likely pathogenic Cleft palate with or without ankyloglossia, X-linked 2024-03-26 criteria provided, single submitter clinical testing

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