Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441757 | SCV000520650 | benign | not specified | 2016-10-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001080563 | SCV000883679 | benign | Carnitine palmitoyl transferase 1A deficiency | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080563 | SCV001012937 | benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing |