Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952879 | SCV001099417 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000952879 | SCV002821329 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | FAT2: BP4, BP7, BS2 |
Prevention |
RCV003935805 | SCV004755677 | benign | FAT2-related disorder | 2019-07-10 | 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). |