Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872628 | SCV001014477 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736932 | SCV004562746 | likely benign | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948190 | SCV004756886 | likely benign | HADHA-related condition | 2020-03-25 | 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). |
Natera, |
RCV001271663 | SCV001452966 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-03-11 | no assertion criteria provided | clinical testing |