Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721388 | SCV000532237 | likely benign | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000936744 | SCV001082516 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942440 | SCV004761455 | likely benign | CPT1A-related disorder | 2023-05-27 | 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). |