Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000973660 | SCV001121429 | benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000973660 | SCV001802065 | likely benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253747 | SCV002524764 | benign | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000973660 | SCV004124761 | benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | AHDC1: BP4, BP7, BS1, BS2 |
Prevention |
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, |
RCV000973660 | SCV005257699 | likely benign | not provided | criteria provided, single submitter | not provided |