ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg)

dbSNP: rs776465786
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000970694 SCV001118287 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000970694 SCV001885690 benign not provided 2019-12-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253740 SCV002524768 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972899 SCV004795738 likely benign AHDC1-related disorder 2022-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.