ClinVar Miner

Submissions for variant NC_000001.11:g.27491184_27584566del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001787408 SCV002030299 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-10-18 criteria provided, single submitter clinical testing De novo deletion in the AHDC1 gene that spans 93.38kb and includes exons 2-7.

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