ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=)

gnomAD frequency: 0.00096  dbSNP: rs145774336
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973660 SCV001121429 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000973660 SCV001802065 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253747 SCV002524764 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973660 SCV004124761 benign not provided 2024-06-01 criteria provided, single submitter clinical testing AHDC1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003928562 SCV004738143 benign AHDC1-related disorder 2021-08-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000973660 SCV005257699 likely benign not provided criteria provided, single submitter not provided

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.