Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000424771 | SCV000510876 | likely benign | not provided | 2016-07-18 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Labcorp Genetics |
RCV000424771 | SCV001097404 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000424771 | SCV001836494 | benign | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253398 | SCV002524778 | benign | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000424771 | SCV002562909 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | AHDC1: BS1, BS2 |
Prevention |
RCV003922688 | SCV004744652 | benign | AHDC1-related disorder | 2020-03-17 | 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, |
RCV000424771 | SCV005257710 | likely benign | not provided | criteria provided, single submitter | not provided |