Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438501 | SCV000522897 | likely benign | not specified | 2017-06-09 | 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. |
Eurofins Ntd Llc |
RCV000438501 | SCV000705331 | benign | not specified | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062535 | SCV002410113 | benign | ALG1-congenital disorder of glycosylation | 2024-02-01 | criteria provided, single submitter | clinical testing |