Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000899736 | SCV001044021 | likely benign | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000899736 | SCV005211174 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004551712 | SCV004742940 | benign | TBX4-related disorder | 2019-10-28 | 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). |