ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)

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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 RCV003988666 SCV004804699 pathogenic Kleefstra syndrome 1 2024-03-17 criteria provided, single submitter research

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