Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001477754 | SCV001682001 | likely benign | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921010 | SCV004728966 | likely benign | IVD-related condition | 2019-05-03 | 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). |