ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1348+1G>T

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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 RCV003990417 SCV004807032 likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 2024-03-26 criteria provided, single submitter clinical testing

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