Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967389 | SCV001114773 | likely benign | Combined malonic and methylmalonic acidemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000967389 | SCV001448970 | likely benign | Combined malonic and methylmalonic acidemia | 2018-09-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960786 | SCV004766991 | benign | ACSF3-related condition | 2019-07-12 | 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). |
Natera, |
RCV000967389 | SCV002092435 | benign | Combined malonic and methylmalonic acidemia | 2019-10-22 | no assertion criteria provided | clinical testing |