Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001079186 | SCV000885259 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079186 | SCV001006451 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757135 | SCV001872431 | benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000757135 | SCV002497148 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | CPT1A: BP4, BS2 |
Genetics and Molecular Pathology, |
RCV001079186 | SCV002556865 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938139 | SCV004750613 | benign | CPT1A-related disorder | 2020-03-25 | 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, |
RCV001079186 | SCV001460481 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |