ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.631G>A (p.Gly211Ser)

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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 RCV003991686 SCV004809814 uncertain significance AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2024-04-04 criteria provided, single submitter clinical testing

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