Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000910746 | SCV001055634 | likely benign | Deficiency of acetyl-CoA acetyltransferase | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000910746 | SCV003822498 | uncertain significance | Deficiency of acetyl-CoA acetyltransferase | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392689 | SCV004131387 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | ACAT1: BS2 |
Natera, |
RCV000910746 | SCV001456958 | uncertain significance | Deficiency of acetyl-CoA acetyltransferase | 2020-04-11 | no assertion criteria provided | clinical testing |