ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs)

dbSNP: rs587779767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235067 SCV000292301 pathogenic Delayed speech and language development; Sleep apnea; Hypotonia 2014-05-01 criteria provided, single submitter clinical testing
Whole genome laboratory; Baylor College of Medicine RCV000144168 SCV000148378 pathogenic Global developmental delay; Delayed speech and language development; Intellectual disability; Neonatal hypotonia; Sleep apnea 2014-04-17 no assertion criteria provided clinical testing
OMIM RCV000119839 SCV000154765 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2014-05-01 no assertion criteria provided literature only
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000119839 SCV001480357 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing

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