Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443471 | SCV000512647 | likely benign | not specified | 2017-02-24 | 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. |
Invitae | RCV000863316 | SCV001003957 | likely benign | Neuronal ceroid lipofuscinosis | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326425 | SCV004033400 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CLN6: BP4, BP7 |