Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001510972 | SCV001718143 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003966065 | SCV004781786 | likely benign | HCFC1-related condition | 2021-07-12 | 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). |