Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971937 | SCV001119616 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000971937 | SCV001473632 | uncertain significance | not provided | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003936138 | SCV004749064 | likely benign | ACACB-related condition | 2019-10-07 | 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). |