Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175297 | SCV000226763 | uncertain significance | not provided | 2014-11-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001081801 | SCV001013371 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000175297 | SCV001961292 | likely benign | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001081801 | SCV004562932 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001081801 | SCV001452924 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2020-04-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003937578 | SCV004755169 | likely benign | CPT1A-related disorder | 2020-07-29 | 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). |