ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2849del (p.Pro950fs)

dbSNP: rs2148273933
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001563694 SCV001480356 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing

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