Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000903361 | SCV001047824 | likely benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958177 | SCV004784173 | likely benign | HCFC1-related condition | 2019-08-27 | criteria provided, single submitter | 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). |