Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002175109 | SCV002343082 | likely benign | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494066 | SCV002801095 | likely benign | Amelogenesis imperfecta type 1G | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003941316 | SCV004763423 | likely benign | FAM20A-related disorder | 2019-02-21 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |