Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002938151 | SCV003266184 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002938151 | SCV003917004 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | FAT2: BP4, BS2 |
Prevention |
RCV003961234 | SCV004766819 | benign | FAT2-related disorder | 2019-07-08 | 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). |