ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003991514 SCV004809087 likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2024-03-23 criteria provided, single submitter clinical testing

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