ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2547del (p.Ser850fs)

dbSNP: rs587779768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235083 SCV000292302 pathogenic Delayed speech and language development; Sleep apnea; Hypotonia 2014-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000119840 SCV000992731 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2014-10-29 criteria provided, single submitter clinical testing
Whole genome laboratory; Baylor College of Medicine RCV000144169 SCV000148379 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 RCV000119840 SCV000154766 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2014-05-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.