Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002122369 | SCV002391368 | benign | Dowling-Degos disease 2 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004717876 | SCV005315045 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003913674 | SCV004729018 | benign | POFUT1-related disorder | 2019-12-09 | no assertion criteria provided | 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). |