ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=)

gnomAD frequency: 0.00035  dbSNP: rs149713889
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
GeneDx RCV001696596 SCV001916295 benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001696596 SCV002459606 benign not provided 2024-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253962 SCV002524773 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 RCV003956326 SCV004770465 likely benign AHDC1-related disorder 2021-02-23 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.